Canonical Allele Identifier: CA117469
Gene: AKR1D1 HGNC NCBI
ClinVar RCV:
RCV000005709
ClinVar Variation:
5378
COSMIC:
COSM177700
dbSNP:
267606650
gnomAD v2:
7:137792252 C / T
gnomAD v3:
7:138107506 C / T
gnomAD v4:
chr7-138107506-C-T
Joint Max Group AF 0.00003341 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00003343 (NFE)
MyVariant.info:
GRCh38 chr7:g.138107506C>T
GRCh37 chr7:g.137792252C>T
Revel Score:
ENST00000432161 0.596
ENST00000411726 0.596
ENST00000242375 (MANE Select) 0.596
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138107506C>T , CM000669.2:g.138107506C>T GRCh38
NC_000007.13:g.137792252C>T , CM000669.1:g.137792252C>T GRCh37
NC_000007.12:g.137442792C>T NCBI36
NG_023342.1:g.36075C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.781C>T MANE Select ENSP00000242375.3:p.Arg261Cys
ENST00000242375.7:c.781C>T ENSP00000242375.3:p.Arg261Cys
ENST00000411726.6:c.658C>T ENSP00000402374.2:p.Arg220Cys
ENST00000432161.5:c.781C>T ENSP00000389197.1:p.Arg261Cys
ENST00000468877.2:n.804C>T
NM_001190906.1:c.658C>T NP_001177835.1:p.Arg220Cys
NM_001190907.1:c.781C>T NP_001177836.1:p.Arg261Cys
NM_005989.3:c.781C>T NP_005980.1:p.Arg261Cys
NM_005989.4:c.781C>T MANE Select NP_005980.1:p.Arg261Cys
NM_001190906.2:c.658C>T NP_001177835.1:p.Arg220Cys
NM_001190907.2:c.781C>T NP_001177836.1:p.Arg261Cys
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