Canonical Allele Identifier: CA1011341

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2072035
• ClinVar RCV Id: RCV002962597
• dbSNP Id: rs754712133
• ExAC: 1:113459992 G / A
• gnomAD v2: 1-113459992-G-A
• gnomAD v4: 1-112917370-G-A
• MyVariant Identifiers: chr1:g.113459992G>A (hg19) ; chr1:g.112917370G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917370G>A , CM000663.2:g.112917370G>A	GRCh38
NC_000001.10:g.113459992G>A , CM000663.1:g.113459992G>A	GRCh37
NC_000001.9:g.113261515G>A	NCBI36
NG_015880.2:g.43559C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369626.8:c.1036C>T MANE Select	ENSP00000358640.4:p.Leu346=
ENST00000429288.2:c.1036C>T	ENSP00000397106.2:p.Leu346=
ENST00000443580.6:c.1036C>T	ENSP00000399104.2:p.Leu346=
ENST00000458229.6:c.1036C>T	ENSP00000416167.2:p.Leu346=
ENST00000679803.1:c.1036C>T	ENSP00000505879.1:p.Leu346=
ENST00000679846.1:n.1953C>T
ENST00000369626.7:c.1036C>T	ENSP00000358640.3:p.Leu346=
ENST00000458229.5:c.1036C>T	ENSP00000416167.1:p.Leu346=
ENST00000538576.5:c.1036C>T	ENSP00000441065.1:p.Leu346=
NM_001166496.1:c.1036C>T	NP_001159968.1:p.Leu346=
NM_003051.3:c.1036C>T	NP_003042.3:p.Leu346=
XM_011542026.1:c.1036C>T	XP_011540328.1:p.Leu346=
XM_011542027.1:c.1036C>T	XP_011540329.1:p.Leu346=
NM_003051.4:c.1036C>T MANE Select	NP_003042.3:p.Leu346=
NM_001166496.2:c.1036C>T	NP_001159968.1:p.Leu346=