Canonical Allele Identifier: CA419708839

Gene: SLC16A1

Linked Data

• dbSNP Id: rs1302074576
• gnomAD v2: 1-113460002-C-T
• MyVariant Identifiers: chr1:g.113460002C>T (hg19) ; chr1:g.112917380C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917380C>T , CM000663.2:g.112917380C>T	GRCh38
NC_000001.10:g.113460002C>T , CM000663.1:g.113460002C>T	GRCh37
NC_000001.9:g.113261525C>T	NCBI36
NG_015880.2:g.43549G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.1026G>A MANE Select	ENSP00000358640.4:p.Val342=
ENST00000429288.2:c.1026G>A	ENSP00000397106.2:p.Val342=
ENST00000443580.6:c.1026G>A	ENSP00000399104.2:p.Val342=
ENST00000458229.6:c.1026G>A	ENSP00000416167.2:p.Val342=
ENST00000679803.1:c.1026G>A	ENSP00000505879.1:p.Val342=
ENST00000679846.1:n.1943G>A
ENST00000369626.7:c.1026G>A	ENSP00000358640.3:p.Val342=
ENST00000458229.5:c.1026G>A	ENSP00000416167.1:p.Val342=
ENST00000538576.5:c.1026G>A	ENSP00000441065.1:p.Val342=
NM_001166496.1:c.1026G>A	NP_001159968.1:p.Val342=
NM_003051.3:c.1026G>A	NP_003042.3:p.Val342=
XM_011542026.1:c.1026G>A	XP_011540328.1:p.Val342=
XM_011542027.1:c.1026G>A	XP_011540329.1:p.Val342=
NM_003051.4:c.1026G>A MANE Select	NP_003042.3:p.Val342=
NM_001166496.2:c.1026G>A	NP_001159968.1:p.Val342=