Canonical Allele Identifier: CA339956924

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1019182
• ClinVar RCV Id: RCV001318582
• dbSNP Id: rs1557645723
• MyVariant Identifiers: chr1:g.43394972G>C (hg19) ; chr1:g.42929301G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929301G>C , CM000663.2:g.42929301G>C	GRCh38
NC_000001.10:g.43394972G>C , CM000663.1:g.43394972G>C	GRCh37
NC_000001.9:g.43167559G>C	NCBI36
NG_008232.1:g.34876C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.881C>G MANE Select	ENSP00000416293.2:p.Ser294Cys
ENST00000674545.1:n.199C>G
ENST00000674765.1:c.881C>G	ENSP00000501811.1:p.Ser294Cys
ENST00000675112.1:n.1182C>G
ENST00000676254.1:n.1330C>G
ENST00000426263.7:c.881C>G	ENSP00000416293.2:p.Ser294Cys
ENST00000439722.2:c.760C>G	ENSP00000395521.2:n.760C>G
ENST00000475162.3:c.415+1325C>G
ENST00000630287.2:c.*196C>G	ENSP00000486694.1:n.*196C>G
NM_006516.2:c.881C>G	NP_006507.2:p.Ser294Cys
NM_006516.3:c.881C>G	NP_006507.2:p.Ser294Cys
NM_006516.4:c.881C>G MANE Select	NP_006507.2:p.Ser294Cys