Canonical Allele Identifier: CA117466
Gene: AKR1D1 HGNC NCBI
ClinVar RCV:
RCV000005705
RCV000426000
ClinVar Variation:
5374
COSMIC:
COSM4660925
dbSNP:
121918342
gnomAD v2:
7:137791367 C / T
gnomAD v3:
7:138106621 C / T
gnomAD v4:
chr7-138106621-C-T
Joint Max Group AF 0.00011896 (NFE)
Genomes Max Group AF 0.00010175 (NFE)
Exomes Max Group AF 0.00011631 (NFE)
MyVariant.info:
GRCh38 chr7:g.138106621C>T
GRCh37 chr7:g.137791367C>T
Revel Score:
ENST00000297463 0.452
ENST00000432161 0.452
ENST00000411726 0.452
ENST00000242375 (MANE Select) 0.452
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.138106621C>T , CM000669.2:g.138106621C>T GRCh38
NC_000007.13:g.137791367C>T , CM000669.1:g.137791367C>T GRCh37
NC_000007.12:g.137441907C>T NCBI36
NG_023342.1:g.35190C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000242375.8:c.593C>T MANE Select ENSP00000242375.3:p.Pro198Leu
ENST00000242375.7:c.593C>T ENSP00000242375.3:p.Pro198Leu
ENST00000411726.6:c.470C>T ENSP00000402374.2:p.Pro157Leu
ENST00000432161.5:c.593C>T ENSP00000389197.1:p.Pro198Leu
ENST00000468877.2:n.503C>T
NM_001190906.1:c.470C>T NP_001177835.1:p.Pro157Leu
NM_001190907.1:c.593C>T NP_001177836.1:p.Pro198Leu
NM_005989.3:c.593C>T NP_005980.1:p.Pro198Leu
NM_005989.4:c.593C>T MANE Select NP_005980.1:p.Pro198Leu
NM_001190906.2:c.470C>T NP_001177835.1:p.Pro157Leu
NM_001190907.2:c.593C>T NP_001177836.1:p.Pro198Leu
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