Canonical Allele Identifier: CA417408377

Gene: SLC2A1

Linked Data

• dbSNP Id: rs755369030
• gnomAD v2: 1-43394702-C-T
• MyVariant Identifiers: chr1:g.43394702C>T (hg19) ; chr1:g.42929031C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929031C>T , CM000663.2:g.42929031C>T	GRCh38
NC_000001.10:g.43394702C>T , CM000663.1:g.43394702C>T	GRCh37
NC_000001.9:g.43167289C>T	NCBI36
NG_008232.1:g.35146G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.975G>A MANE Select	ENSP00000416293.2:p.Leu325=
ENST00000674545.1:n.469G>A
ENST00000674765.1:c.975G>A	ENSP00000501811.1:p.Leu325=
ENST00000675112.1:n.1276G>A
ENST00000676254.1:n.1424G>A
ENST00000426263.7:c.975G>A	ENSP00000416293.2:p.Leu325=
ENST00000439722.2:c.854G>A	ENSP00000395521.2:n.854G>A
ENST00000475162.3:c.415+1595G>A
ENST00000630287.2:c.*290G>A	ENSP00000486694.1:n.*290G>A
NM_006516.2:c.975G>A	NP_006507.2:p.Leu325=
NM_006516.3:c.975G>A	NP_006507.2:p.Leu325=
NM_006516.4:c.975G>A MANE Select	NP_006507.2:p.Leu325=