Canonical Allele Identifier: CA21252033

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2633446
• ClinVar RCV Id: RCV004552455
• dbSNP Id: rs780519584
• MyVariant Identifiers: chr1:g.43396389T>C (hg19) ; chr1:g.42930718T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930718T>C , CM000663.2:g.42930718T>C	GRCh38
NC_000001.10:g.43396389T>C , CM000663.1:g.43396389T>C	GRCh37
NC_000001.9:g.43168976T>C	NCBI36
NG_008232.1:g.33459A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.424A>G MANE Select	ENSP00000416293.2:p.Met142Val
ENST00000674765.1:c.424A>G	ENSP00000501811.1:p.Met142Val
ENST00000675112.1:n.447A>G
ENST00000676254.1:n.873A>G
ENST00000372500.4:c.328A>G	ENSP00000361578.4:p.Met110Val
ENST00000426263.7:c.424A>G	ENSP00000416293.2:p.Met142Val
ENST00000439722.2:c.303A>G	ENSP00000395521.2:n.303A>G
ENST00000475162.3:c.323A>G
ENST00000625233.2:n.632A>G
ENST00000630287.2:c.424A>G	ENSP00000486694.1:p.Met142Val
NM_006516.2:c.424A>G	NP_006507.2:p.Met142Val
NM_006516.3:c.424A>G	NP_006507.2:p.Met142Val
NM_006516.4:c.424A>G MANE Select	NP_006507.2:p.Met142Val