Canonical Allele Identifier: CA417408379

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1021817
• ClinVar RCV Id: RCV001321638
• dbSNP Id: rs1643458099
• COSMIC: COSM83898
• MyVariant Identifiers: chr1:g.43394704G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929033G>A , CM000663.2:g.42929033G>A	GRCh38
NC_000001.10:g.43394704G>A , CM000663.1:g.43394704G>A	GRCh37
NC_000001.9:g.43167291G>A	NCBI36
NG_008232.1:g.35144C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.973C>T MANE Select	ENSP00000416293.2:p.Leu325=
ENST00000674545.1:n.467C>T
ENST00000674765.1:c.973C>T	ENSP00000501811.1:p.Leu325=
ENST00000675112.1:n.1274C>T
ENST00000676254.1:n.1422C>T
ENST00000426263.7:c.973C>T	ENSP00000416293.2:p.Leu325=
ENST00000439722.2:c.852C>T	ENSP00000395521.2:n.852C>T
ENST00000475162.3:c.415+1593C>T
ENST00000630287.2:c.*288C>T	ENSP00000486694.1:n.*288C>T
NM_006516.2:c.973C>T	NP_006507.2:p.Leu325=
NM_006516.3:c.973C>T	NP_006507.2:p.Leu325=
NM_006516.4:c.973C>T MANE Select	NP_006507.2:p.Leu325=