Canonical Allele Identifier: CA419708492

Gene: SLC16A1

Linked Data

• gnomAD v4: 1-112917593-C-A
• MyVariant Identifiers: chr1:g.113460215C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917593C>A , CM000663.2:g.112917593C>A	GRCh38
NC_000001.10:g.113460215C>A , CM000663.1:g.113460215C>A	GRCh37
NC_000001.9:g.113261738C>A	NCBI36
NG_015880.2:g.43336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.813G>T MANE Select	ENSP00000358640.4:p.Val271=
ENST00000429288.2:c.813G>T	ENSP00000397106.2:p.Val271=
ENST00000443580.6:c.813G>T	ENSP00000399104.2:p.Val271=
ENST00000458229.6:c.813G>T	ENSP00000416167.2:p.Val271=
ENST00000679803.1:c.813G>T	ENSP00000505879.1:p.Val271=
ENST00000679846.1:n.1730G>T
ENST00000369626.7:c.813G>T	ENSP00000358640.3:p.Val271=
ENST00000443580.5:c.813G>T	ENSP00000399104.1:p.Val271=
ENST00000458229.5:c.813G>T	ENSP00000416167.1:p.Val271=
ENST00000538576.5:c.813G>T	ENSP00000441065.1:p.Val271=
NM_001166496.1:c.813G>T	NP_001159968.1:p.Val271=
NM_003051.3:c.813G>T	NP_003042.3:p.Val271=
XM_011542026.1:c.813G>T	XP_011540328.1:p.Val271=
XM_011542027.1:c.813G>T	XP_011540329.1:p.Val271=
NM_003051.4:c.813G>T MANE Select	NP_003042.3:p.Val271=
NM_001166496.2:c.813G>T	NP_001159968.1:p.Val271=