Canonical Allele Identifier: CA339960880

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 944098
• ClinVar RCV Id: RCV001214425
• dbSNP Id: rs1643480228
• MyVariant Identifiers: chr1:g.43396416A>G (hg19) ; chr1:g.42930745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930745A>G , CM000663.2:g.42930745A>G	GRCh38
NC_000001.10:g.43396416A>G , CM000663.1:g.43396416A>G	GRCh37
NC_000001.9:g.43169003A>G	NCBI36
NG_008232.1:g.33432T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.397T>C MANE Select	ENSP00000416293.2:p.Cys133Arg
ENST00000674765.1:c.397T>C	ENSP00000501811.1:p.Cys133Arg
ENST00000675112.1:n.420T>C
ENST00000676254.1:n.846T>C
ENST00000372500.4:c.301T>C	ENSP00000361578.4:p.Cys101Arg
ENST00000426263.7:c.397T>C	ENSP00000416293.2:p.Cys133Arg
ENST00000439722.2:c.276T>C	ENSP00000395521.2:n.276T>C
ENST00000475162.3:c.296T>C
ENST00000625233.2:n.605T>C
ENST00000630287.2:c.397T>C	ENSP00000486694.1:p.Cys133Arg
NM_006516.2:c.397T>C	NP_006507.2:p.Cys133Arg
NM_006516.3:c.397T>C	NP_006507.2:p.Cys133Arg
NM_006516.4:c.397T>C MANE Select	NP_006507.2:p.Cys133Arg