Canonical Allele Identifier: CA341828297

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2104664
• ClinVar RCV Id: RCV003014740
• MyVariant Identifiers: chr1:g.113460277G>C (hg19) ; chr1:g.112917655G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917655G>C , CM000663.2:g.112917655G>C	GRCh38
NC_000001.10:g.113460277G>C , CM000663.1:g.113460277G>C	GRCh37
NC_000001.9:g.113261800G>C	NCBI36
NG_015880.2:g.43274C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.751C>G MANE Select	ENSP00000358640.4:p.Gln251Glu
ENST00000429288.2:c.751C>G	ENSP00000397106.2:p.Gln251Glu
ENST00000443580.6:c.751C>G	ENSP00000399104.2:p.Gln251Glu
ENST00000458229.6:c.751C>G	ENSP00000416167.2:p.Gln251Glu
ENST00000679803.1:c.751C>G	ENSP00000505879.1:p.Gln251Glu
ENST00000679846.1:n.1668C>G
ENST00000369626.7:c.751C>G	ENSP00000358640.3:p.Gln251Glu
ENST00000443580.5:c.751C>G	ENSP00000399104.1:p.Gln251Glu
ENST00000458229.5:c.751C>G	ENSP00000416167.1:p.Gln251Glu
ENST00000538576.5:c.751C>G	ENSP00000441065.1:p.Gln251Glu
NM_001166496.1:c.751C>G	NP_001159968.1:p.Gln251Glu
NM_003051.3:c.751C>G	NP_003042.3:p.Gln251Glu
XM_011542026.1:c.751C>G	XP_011540328.1:p.Gln251Glu
XM_011542027.1:c.751C>G	XP_011540329.1:p.Gln251Glu
NM_003051.4:c.751C>G MANE Select	NP_003042.3:p.Gln251Glu
NM_001166496.2:c.751C>G	NP_001159968.1:p.Gln251Glu