Canonical Allele Identifier: CA341828602

Gene: SLC16A1

Linked Data

• ClinVar Variation Id: 2989203
• ClinVar RCV Id: RCV003849354
• dbSNP Id: rs1394755025
• gnomAD v3: 1-112917795-T-G
• gnomAD v4: 1-112917795-T-G
• MyVariant Identifiers: chr1:g.113460417T>G (hg19) ; chr1:g.112917795T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.112917795T>G , CM000663.2:g.112917795T>G	GRCh38
NC_000001.10:g.113460417T>G , CM000663.1:g.113460417T>G	GRCh37
NC_000001.9:g.113261940T>G	NCBI36
NG_015880.2:g.43134A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369626.8:c.611A>C MANE Select	ENSP00000358640.4:p.Lys204Thr
ENST00000429288.2:c.611A>C	ENSP00000397106.2:p.Lys204Thr
ENST00000443580.6:c.611A>C	ENSP00000399104.2:p.Lys204Thr
ENST00000458229.6:c.611A>C	ENSP00000416167.2:p.Lys204Thr
ENST00000679803.1:c.611A>C	ENSP00000505879.1:p.Lys204Thr
ENST00000679846.1:n.1528A>C
ENST00000369626.7:c.611A>C	ENSP00000358640.3:p.Lys204Thr
ENST00000429288.1:c.611A>C	ENSP00000397106.1:p.Lys204Thr
ENST00000443580.5:c.611A>C	ENSP00000399104.1:p.Lys204Thr
ENST00000458229.5:c.611A>C	ENSP00000416167.1:p.Lys204Thr
ENST00000538576.5:c.611A>C	ENSP00000441065.1:p.Lys204Thr
NM_001166496.1:c.611A>C	NP_001159968.1:p.Lys204Thr
NM_003051.3:c.611A>C	NP_003042.3:p.Lys204Thr
XM_011542026.1:c.611A>C	XP_011540328.1:p.Lys204Thr
XM_011542027.1:c.611A>C	XP_011540329.1:p.Lys204Thr
NM_003051.4:c.611A>C MANE Select	NP_003042.3:p.Lys204Thr
NM_001166496.2:c.611A>C	NP_001159968.1:p.Lys204Thr