Canonical Allele Identifier: CA417543471

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395450C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929779C>T , CM000663.2:g.42929779C>T	GRCh38
NC_000001.10:g.43395450C>T , CM000663.1:g.43395450C>T	GRCh37
NC_000001.9:g.43168037C>T	NCBI36
NG_008232.1:g.34398G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.681G>A MANE Select	ENSP00000416293.2:p.Val227=
ENST00000669445.1:c.57-46G>A
ENST00000674765.1:c.681G>A	ENSP00000501811.1:p.Val227=
ENST00000675112.1:n.704G>A
ENST00000676254.1:n.1130G>A
ENST00000426263.7:c.681G>A	ENSP00000416293.2:p.Val227=
ENST00000439722.2:c.560G>A	ENSP00000395521.2:n.560G>A
ENST00000475162.3:c.415+847G>A
ENST00000630287.2:c.518G>A	ENSP00000486694.1:p.Cys173Tyr
NM_006516.2:c.681G>A	NP_006507.2:p.Val227=
NM_006516.3:c.681G>A	NP_006507.2:p.Val227=
NM_006516.4:c.681G>A MANE Select	NP_006507.2:p.Val227=