Canonical Allele Identifier: CA339953729

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1363360
• ClinVar RCV Id: RCV001902216
• dbSNP Id: rs1570590876
• MyVariant Identifiers: chr1:g.43393331C>G (hg19) ; chr1:g.42927660C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927660C>G , CM000663.2:g.42927660C>G	GRCh38
NC_000001.10:g.43393331C>G , CM000663.1:g.43393331C>G	GRCh37
NC_000001.9:g.43165918C>G	NCBI36
NG_008232.1:g.36517G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1223G>C MANE Select	ENSP00000416293.2:p.Gly408Ala
ENST00000674545.1:n.1840G>C
ENST00000674765.1:c.1030-803G>C	ENSP00000501811.1:n.1030-803G>C
ENST00000675112.1:n.1524G>C
ENST00000676254.1:n.1672G>C
ENST00000426263.7:c.1223G>C	ENSP00000416293.2:p.Gly408Ala
ENST00000475162.3:c.416-682G>C
ENST00000630287.2:c.*538G>C	ENSP00000486694.1:n.*538G>C
NM_006516.2:c.1223G>C	NP_006507.2:p.Gly408Ala
NM_006516.3:c.1223G>C	NP_006507.2:p.Gly408Ala
NM_006516.4:c.1223G>C MANE Select	NP_006507.2:p.Gly408Ala