Canonical Allele Identifier: CA417409248

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1422836
• ClinVar RCV Id: RCV001926275
• dbSNP Id: rs2124448800
• MyVariant Identifiers: chr1:g.43395264A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929593A>T , CM000663.2:g.42929593A>T	GRCh38
NC_000001.10:g.43395264A>T , CM000663.1:g.43395264A>T	GRCh37
NC_000001.9:g.43167851A>T	NCBI36
NG_008232.1:g.34584T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.867T>A MANE Select	ENSP00000416293.2:p.Ala289=
ENST00000674765.1:c.867T>A	ENSP00000501811.1:p.Ala289=
ENST00000675112.1:n.890T>A
ENST00000676254.1:n.1316T>A
ENST00000426263.7:c.867T>A	ENSP00000416293.2:p.Ala289=
ENST00000439722.2:c.746T>A	ENSP00000395521.2:n.746T>A
ENST00000475162.3:c.415+1033T>A
ENST00000630287.2:c.*182T>A	ENSP00000486694.1:n.*182T>A
NM_006516.2:c.867T>A	NP_006507.2:p.Ala289=
NM_006516.3:c.867T>A	NP_006507.2:p.Ala289=
NM_006516.4:c.867T>A MANE Select	NP_006507.2:p.Ala289=