Canonical Allele Identifier: CA341828078

Gene: SLC16A1

Linked Data

• MyVariant Identifiers: chr1:g.113460179A>T (hg19) ; chr1:g.112917557A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917557A>T , CM000663.2:g.112917557A>T	GRCh38
NC_000001.10:g.113460179A>T , CM000663.1:g.113460179A>T	GRCh37
NC_000001.9:g.113261702A>T	NCBI36
NG_015880.2:g.43372T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.849T>A MANE Select	ENSP00000358640.4:p.Phe283Leu
ENST00000429288.2:c.849T>A	ENSP00000397106.2:p.Phe283Leu
ENST00000443580.6:c.849T>A	ENSP00000399104.2:p.Phe283Leu
ENST00000458229.6:c.849T>A	ENSP00000416167.2:p.Phe283Leu
ENST00000679803.1:c.849T>A	ENSP00000505879.1:p.Phe283Leu
ENST00000679846.1:n.1766T>A
ENST00000369626.7:c.849T>A	ENSP00000358640.3:p.Phe283Leu
ENST00000443580.5:c.849T>A	ENSP00000399104.1:p.Phe283Leu
ENST00000458229.5:c.849T>A	ENSP00000416167.1:p.Phe283Leu
ENST00000538576.5:c.849T>A	ENSP00000441065.1:p.Phe283Leu
NM_001166496.1:c.849T>A	NP_001159968.1:p.Phe283Leu
NM_003051.3:c.849T>A	NP_003042.3:p.Phe283Leu
XM_011542026.1:c.849T>A	XP_011540328.1:p.Phe283Leu
XM_011542027.1:c.849T>A	XP_011540329.1:p.Phe283Leu
NM_003051.4:c.849T>A MANE Select	NP_003042.3:p.Phe283Leu
NM_001166496.2:c.849T>A	NP_001159968.1:p.Phe283Leu