Canonical Allele Identifier: CA173973

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 160369
• ClinVar RCV Id: RCV000148036 ; RCV001262832
• dbSNP Id: rs606231309
• ExAC: 1:113471889 T / TG
• gnomAD v2: 1-113471889-T-TG
• gnomAD v3: 1-112929267-T-TG
• gnomAD v4: 1-112929267-T-TG
• COSMIC: COSM1332782 ; COSM4726540
• MyVariant Identifiers: chr1:g.113471890dupG (hg19) ; chr1:g.113471889_113471890insG (hg19) ; chr1:g.112929268dupG (hg38) ; chr1:g.112929267_112929268insG (hg38)
• PubMed: PMID:25390740

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112929274dup , CM000663.2:g.112929274dup	GRCh38
NC_000001.10:g.113471896dup , CM000663.1:g.113471896dup	GRCh37
NC_000001.9:g.113273419dup	NCBI36
NG_015880.2:g.31661dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000369626.8:c.41dup MANE Select	ENSP00000358640.4:p.Asp15ArgfsTer?
ENST00000429288.2:c.41dup	ENSP00000397106.2:p.Asp15ArgfsTer?
ENST00000443580.6:c.41dup	ENSP00000399104.2:p.Asp15ArgfsTer?
ENST00000458229.6:c.41dup	ENSP00000416167.2:p.Asp15ArgfsTer?
ENST00000679803.1:c.41dup	ENSP00000505879.1:p.Asp15ArgfsTer?
ENST00000679846.1:n.958dup
ENST00000369626.7:c.41dup	ENSP00000358640.3:p.Asp15ArgfsTer?
ENST00000429288.1:c.41dup	ENSP00000397106.1:p.Asp15ArgfsTer?
ENST00000443580.5:c.41dup	ENSP00000399104.1:p.Asp15ArgfsTer?
ENST00000458229.5:c.41dup	ENSP00000416167.1:p.Asp15ArgfsTer?
ENST00000478835.1:n.232dup
ENST00000538576.5:c.41dup	ENSP00000441065.1:p.Asp15ArgfsTer?
NM_001166496.1:c.41dup	NP_001159968.1:p.Asp15ArgfsTer?
NM_003051.3:c.41dup	NP_003042.3:p.Asp15ArgfsTer?
XM_011542026.1:c.41dup	XP_011540328.1:p.Asp15ArgfsTer?
XM_011542027.1:c.41dup	XP_011540329.1:p.Asp15ArgfsTer?
NM_003051.4:c.41dup MANE Select	NP_003042.3:p.Asp15ArgfsTer?
NM_001166496.2:c.41dup	NP_001159968.1:p.Asp15ArgfsTer?