Canonical Allele Identifier: CA4502656

Gene: AKR1D1

Linked Data

• ClinVar Variation Id: 594766
• ClinVar RCV Id: RCV000730130 ; RCV000987976
• dbSNP Id: rs187887082
• ExAC: 7:137776584 T / C
• gnomAD v2: 7-137776584-T-C
• gnomAD v3: 7-138091838-T-C
• gnomAD v4: 7-138091838-T-C
• MyVariant Identifiers: chr7:g.137776584T>C (hg19) ; chr7:g.138091838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.138091838T>C , CM000669.2:g.138091838T>C	GRCh38
NC_000007.13:g.137776584T>C , CM000669.1:g.137776584T>C	GRCh37
NC_000007.12:g.137427124T>C	NCBI36
NG_023342.1:g.20407T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000242375.8:c.332T>C MANE Select	ENSP00000242375.3:p.Leu111Pro
ENST00000242375.7:c.332T>C	ENSP00000242375.3:p.Leu111Pro
ENST00000411726.6:c.332T>C	ENSP00000402374.2:p.Leu111Pro
ENST00000432161.5:c.332T>C	ENSP00000389197.1:p.Leu111Pro
ENST00000438242.1:c.164T>C	ENSP00000397042.1:p.Leu55Pro
ENST00000468877.2:n.242T>C
NM_001190906.1:c.332T>C	NP_001177835.1:p.Leu111Pro
NM_001190907.1:c.332T>C	NP_001177836.1:p.Leu111Pro
NM_005989.3:c.332T>C	NP_005980.1:p.Leu111Pro
NM_005989.4:c.332T>C MANE Select	NP_005980.1:p.Leu111Pro
NM_001190906.2:c.332T>C	NP_001177835.1:p.Leu111Pro
NM_001190907.2:c.332T>C	NP_001177836.1:p.Leu111Pro