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Gene information | Literature | Expression | lncRNA | Mutation | Homolog

Basic Information

Gene ID

216

Name

ALDH1A1

Synonymous

aldehyde dehydrogenase 1 family, member A1;ALDH1A1;aldehyde dehydrogenase 1 family, member A1

Definition

ALDH class 1|ALHDII|RALDH 1|acetaldehyde dehydrogenase 1|aldehyde dehydrogenase 1, soluble|aldehyde dehydrogenase, liver cytosolic|epididymis luminal protein 12|epididymis luminal protein 9|epididymis secretory sperm binding protein Li 53e|retinal dehydro

Position

9q21.13

Gene Type

protein-coding

COSMIC confirmed somatic mutation   [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.1373G>C; p.G458A; 9:72906018-72906018

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.216G>T; p.Q72H; 9:72930975-72930975

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.228G>A; p.P76P; 9:72930963-72930963

 breastcarcinomaSubstitution - coding silent

c.311C>T; p.A104V; 9:72930880-72930880

 breastcarcinomaSubstitution - Missense

c.1467C>G; p.V489V; 9:72901247-72901247

 breastcarcinomaSubstitution - coding silent

c.777G>A; p.G259G; 9:72918793-72918793

 breastcarcinomaSubstitution - coding silent

c.546T>G; p.P182P; 9:72925571-72925571

 breastcarcinomaSubstitution - coding silent

c.1502C>T; p.S501L; 9:72901212-72901212

 breastcarcinomaSubstitution - Missense

c.537G>A; p.K179K; 9:72925580-72925580

 breastcarcinomaSubstitution - coding silent

c.881G>T; p.G294V; 9:72917074-72917074

 breastcarcinoma; basal_(triple-negative)_carcinomaSubstitution - Missense

c.772G>T; p.A258S; 9:72918798-72918798

 breastcarcinomaSubstitution - Missense

c.17C>T; p.T6M; 9:72952984-72952984

 central_nervous_system; brainglioma; astrocytoma_Grade_IVSubstitution - Missense

c.1373G>A; p.G458D; 9:72906018-72906018

 central_nervous_system; braingliomaSubstitution - Missense

c.916G>A; p.A306T; 9:72917039-72917039

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1392C>T; p.C464C; 9:72905999-72905999

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.910A>G; p.I304V; 9:72917045-72917045

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1497_1499delGAA; p.K499delK; 9:72901215-72901217

 endometriumcarcinoma; endometrioid_carcinomaDeletion - In frame

c.166G>A; p.D56N; 9:72940153-72940153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.288C>T; p.I96I; 9:72930903-72930903

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - coding silent

c.1354G>A; p.V452M; 9:72909606-72909606

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.1184G>A; p.R395H; 9:72911974-72911974

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.961C>T; p.R321*; 9:72916994-72916994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Nonsense

c.467G>A; p.R156K; 9:72927153-72927153

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.452T>G; p.F151C; 9:72927168-72927168

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.10T>G; p.S4A; 9:72952991-72952991

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.225C>G; p.S75S; 9:72930966-72930966

 haematopoietic_and_lymphoid_tissuehaematopoietic_neoplasm; acute_myeloid_leukaemiaSubstitution - coding silent

c.643C>T; p.P215S; 9:72924123-72924123

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.643C>T; p.P215S; 9:72924123-72924123

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; hairy_cell_leukaemiaSubstitution - Missense

c.299G>A; p.R100H; 9:72930892-72930892

 haematopoietic_and_lymphoid_tissuelymphoid_neoplasm; Burkitt_lymphomaSubstitution - Missense

c.1213G>T; p.V405L; 9:72909747-72909747

 haematopoietic_and_lymphoid_tissue; lymph_nodelymphoid_neoplasm; mantle_cell_lymphomaSubstitution - Missense

c.147C>T; p.L49L; 9:72940172-72940172

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.264A>G; p.L88L; 9:72930927-72930927

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.572T>C; p.V191A; 9:72925545-72925545

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - Missense

c.1275C>A; p.F425L; 9:72909685-72909685

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1337C>A; p.A446D; 9:72909623-72909623

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.548C>A; p.A183E; 9:72925569-72925569

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1126G>A; p.G376R; 9:72912032-72912032

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1261G>A; p.A421T; 9:72909699-72909699

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - Missense

c.1093G>A; p.G365R; 9:72912065-72912065

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1392C>T; p.C464C; 9:72905999-72905999

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - coding silent

c.319G>T; p.E107*; 9:72929015-72929015

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1436G>T; p.G479V; 9:72901278-72901278

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.976C>T; p.R326W; 9:72916979-72916979

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1071C>A; p.L357L; 9:72912087-72912087

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.1204T>G; p.F402V; 9:72909756-72909756

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.270C>A; p.Y90*; 9:72930921-72930921

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Nonsense

c.900C>T; p.G300G; 9:72917055-72917055

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.289G>A; p.E97K; 9:72930902-72930902

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.289G>A; p.E97K; 9:72930902-72930902

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.1036-1G>T; p.?; 9:72912123-72912123

 large_intestine; coloncarcinoma; adenocarcinomaUnknown

c.902A>G; p.Q301R; 9:72917053-72917053

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.569T>A; p.V190E; 9:72925548-72925548

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.391C>T; p.R131C; 9:72928943-72928943

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.1145T>C; p.V382A; 9:72912013-72912013

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.79A>G; p.N27D; 9:72940240-72940240

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.818A>G; p.K273R; 9:72918752-72918752

 large_intestinecarcinoma; adenocarcinomaSubstitution - Missense

c.399T>C; p.C133C; 9:72928935-72928935

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.320A>G; p.E107G; 9:72929014-72929014

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - Missense

c.248C>T; p.S83F; 9:72930943-72930943

 livercarcinomaSubstitution - Missense

c.1090G>C; p.E364Q; 9:72912068-72912068

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.1327A>G; p.I443V; 9:72909633-72909633

 lungcarcinoma; adenocarcinomaSubstitution - Missense

c.269A>G; p.Y90C; 9:72930922-72930922

 lung; right_lower_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.352G>T; p.A118S; 9:72928982-72928982

 lungcarcinoma; non_small_cell_carcinomaSubstitution - Missense

c.1098C>A; p.A366A; 9:72912060-72912060

 lungcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1177G>A; p.E393K; 9:72911981-72911981

 lung; right_upper_lobecarcinoma; adenocarcinomaSubstitution - Missense

c.643C>T; p.P215S; 9:72924123-72924123

 NSmalignant_melanomaSubstitution - Missense

c.847G>A; p.D283N; 9:72918723-72918723

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.233G>A; p.R78H; 9:72930958-72930958

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.321G>A; p.E107E; 9:72929013-72929013

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.903G>A; p.Q301Q; 9:72917052-72917052

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.1128G>A; p.G376G; 9:72912030-72912030

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.502C>G; p.P168A; 9:72927118-72927118

 pancreascarcinoid-endocrine_tumourSubstitution - Missense

c.962G>A; p.R321Q; 9:72916993-72916993

 prostatecarcinomaSubstitution - Missense

c.1136G>T; p.G379V; 9:72912022-72912022

 prostatecarcinoma; adenocarcinomaSubstitution - Missense

c.1395C>T; p.P465P; 9:72905996-72905996

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1339C>T; p.L447L; 9:72909621-72909621

 skinmalignant_melanomaSubstitution - coding silent

c.1167T>G; p.N389K; 9:72911991-72911991

 skinmalignant_melanomaSubstitution - Missense

c.1450C>T; p.H484Y; 9:72901264-72901264

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1332C>G; p.S444S; 9:72909628-72909628

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.998G>A; p.G333E; 9:72916957-72916957

 skinmalignant_melanomaSubstitution - Missense

c.288C>T; p.I96I; 9:72930903-72930903

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.1128G>A; p.G376G; 9:72912030-72912030

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.157G>A; p.E53K; 9:72940162-72940162

 skinmalignant_melanomaSubstitution - Missense

c.560G>A; p.G187E; 9:72925557-72925557

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1030C>T; p.P344S; 9:72916925-72916925

 skinmalignant_melanomaSubstitution - Missense

c.1226T>C; p.M409T; 9:72909734-72909734

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1358+1G>A; p.?; 9:72909601-72909601

 skinmalignant_melanomaUnknown

c.815G>A; p.G272E; 9:72918755-72918755

 skinmalignant_melanomaSubstitution - Missense

c.965G>A; p.R322K; 9:72916990-72916990

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.1036-1G>A; p.?; 9:72912123-72912123

 skin; head_neckcarcinoma; squamous_cell_carcinomaUnknown

c.442G>A; p.D148N; 9:72928892-72928892

 soft_tissue; fibrous_tissue_and_uncertain_osynovial_sarcomaSubstitution - Missense

c.228G>A; p.P76P; 9:72930963-72930963

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.79A>C; p.N27H; 9:72940240-72940240

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.731T>C; p.F244S; 9:72924035-72924035

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.312G>T; p.A104A; 9:72930879-72930879

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.747+4A>G; p.?; 9:72924015-72924015

 stomachadenocarcinomaUnknown

c.392G>A; p.R131H; 9:72928942-72928942

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.634-3T>G; p.?; 9:72924135-72924135

 stomachadenocarcinomaUnknown

c.747+3A>T; p.?; 9:72924016-72924016

 stomachadenocarcinomaUnknown

c.439A>G; p.I147V; 9:72928895-72928895

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.87G>A; p.W29*; 9:72940232-72940232

 stomachcarcinoma; adenocarcinomaSubstitution - Nonsense

c.1259G>C; p.R420T; 9:72909701-72909701

 stomachcarcinoma; intestinal_adenocarcinomaSubstitution - Missense

c.1183C>T; p.R395C; 9:72911975-72911975

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.1214T>C; p.V405A; 9:72909746-72909746

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.651A>C; p.G217G; 9:72924115-72924115

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.9C>A; p.S3S; 9:72952992-72952992

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.1124G>C; p.W375S; 9:72912034-72912034

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.818A>C; p.K273T; 9:72918752-72918752

 urinary_tract; bladdercarcinomaSubstitution - Missense

c.552G>C; p.L184L; 9:72925565-72925565

 urinary_tract; bladdercarcinomaSubstitution - coding silent

c.48G>A; p.L16L; 9:72952953-72952953

 urinary_tract; bladdercarcinomaSubstitution - coding silent