Canonical Allele Identifier: CA341828592

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2787198
• ClinVar RCV Id: RCV003660621
• dbSNP Id: rs1648568941
• gnomAD v3: 1-112917790-C-G
• gnomAD v4: 1-112917790-C-G
• MyVariant Identifiers: chr1:g.113460412C>G (hg19) ; chr1:g.112917790C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917790C>G , CM000663.2:g.112917790C>G	GRCh38
NC_000001.10:g.113460412C>G , CM000663.1:g.113460412C>G	GRCh37
NC_000001.9:g.113261935C>G	NCBI36
NG_015880.2:g.43139G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.616G>C MANE Select	ENSP00000358640.4:p.Gly206Arg
ENST00000429288.2:c.616G>C	ENSP00000397106.2:p.Gly206Arg
ENST00000443580.6:c.616G>C	ENSP00000399104.2:p.Gly206Arg
ENST00000458229.6:c.616G>C	ENSP00000416167.2:p.Gly206Arg
ENST00000679803.1:c.616G>C	ENSP00000505879.1:p.Gly206Arg
ENST00000679846.1:n.1533G>C
ENST00000369626.7:c.616G>C	ENSP00000358640.3:p.Gly206Arg
ENST00000429288.1:c.616G>C	ENSP00000397106.1:p.Gly206Arg
ENST00000443580.5:c.616G>C	ENSP00000399104.1:p.Gly206Arg
ENST00000458229.5:c.616G>C	ENSP00000416167.1:p.Gly206Arg
ENST00000538576.5:c.616G>C	ENSP00000441065.1:p.Gly206Arg
NM_001166496.1:c.616G>C	NP_001159968.1:p.Gly206Arg
NM_003051.3:c.616G>C	NP_003042.3:p.Gly206Arg
XM_011542026.1:c.616G>C	XP_011540328.1:p.Gly206Arg
XM_011542027.1:c.616G>C	XP_011540329.1:p.Gly206Arg
NM_003051.4:c.616G>C MANE Select	NP_003042.3:p.Gly206Arg
NM_001166496.2:c.616G>C	NP_001159968.1:p.Gly206Arg