Canonical Allele Identifier: CA525541929

Gene: SLC16A1

Linked Data

• dbSNP Id: rs746267011
• gnomAD v2: 1-113456493-T-C
• gnomAD v4: 1-112913871-T-C
• MyVariant Identifiers: chr1:g.113456493T>C (hg19) ; chr1:g.112913871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112913871T>C , CM000663.2:g.112913871T>C	GRCh38
NC_000001.10:g.113456493T>C , CM000663.1:g.113456493T>C	GRCh37
NC_000001.9:g.113258016T>C	NCBI36
NG_015880.2:g.47058A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369626.8:c.*20A>G MANE Select	ENSP00000358640.4:n.*20A>G
ENST00000429288.2:c.*20A>G	ENSP00000397106.2:n.*20A>G
ENST00000443580.6:c.*20A>G	ENSP00000399104.2:n.*20A>G
ENST00000458229.6:c.*20A>G	ENSP00000416167.2:n.*20A>G
ENST00000679803.1:c.*20A>G	ENSP00000505879.1:n.*20A>G
ENST00000369626.7:c.*20A>G	ENSP00000358640.3:n.*20A>G
ENST00000538576.5:c.*20A>G	ENSP00000441065.1:n.*20A>G
NM_001166496.1:c.*20A>G	NP_001159968.1:n.*20A>G
NM_003051.3:c.*20A>G	NP_003042.3:n.*20A>G
XM_011542026.1:c.*20A>G	XP_011540328.1:n.*20A>G
XM_011542027.1:c.*20A>G	XP_011540329.1:n.*20A>G
NM_003051.4:c.*20A>G MANE Select	NP_003042.3:n.*20A>G
NM_001166496.2:c.*20A>G	NP_001159968.1:n.*20A>G