Canonical Allele Identifier: CA1011374

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2974031
• ClinVar RCV Id: RCV003833605
• dbSNP Id: rs372313400
• ExAC: 1:113460287 T / C
• gnomAD v2: 1-113460287-T-C
• gnomAD v4: 1-112917665-T-C
• MyVariant Identifiers: chr1:g.113460287T>C (hg19) ; chr1:g.112917665T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917665T>C , CM000663.2:g.112917665T>C	GRCh38
NC_000001.10:g.113460287T>C , CM000663.1:g.113460287T>C	GRCh37
NC_000001.9:g.113261810T>C	NCBI36
NG_015880.2:g.43264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.741A>G MANE Select	ENSP00000358640.4:p.Gln247=
ENST00000429288.2:c.741A>G	ENSP00000397106.2:p.Gln247=
ENST00000443580.6:c.741A>G	ENSP00000399104.2:p.Gln247=
ENST00000458229.6:c.741A>G	ENSP00000416167.2:p.Gln247=
ENST00000679803.1:c.741A>G	ENSP00000505879.1:p.Gln247=
ENST00000679846.1:n.1658A>G
ENST00000369626.7:c.741A>G	ENSP00000358640.3:p.Gln247=
ENST00000443580.5:c.741A>G	ENSP00000399104.1:p.Gln247=
ENST00000458229.5:c.741A>G	ENSP00000416167.1:p.Gln247=
ENST00000538576.5:c.741A>G	ENSP00000441065.1:p.Gln247=
NM_001166496.1:c.741A>G	NP_001159968.1:p.Gln247=
NM_003051.3:c.741A>G	NP_003042.3:p.Gln247=
XM_011542026.1:c.741A>G	XP_011540328.1:p.Gln247=
XM_011542027.1:c.741A>G	XP_011540329.1:p.Gln247=
NM_003051.4:c.741A>G MANE Select	NP_003042.3:p.Gln247=
NM_001166496.2:c.741A>G	NP_001159968.1:p.Gln247=