Canonical Allele Identifier: CA417409047

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394920A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929249A>T , CM000663.2:g.42929249A>T	GRCh38
NC_000001.10:g.43394920A>T , CM000663.1:g.43394920A>T	GRCh37
NC_000001.9:g.43167507A>T	NCBI36
NG_008232.1:g.34928T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.933T>A MANE Select	ENSP00000416293.2:p.Ile311=
ENST00000674545.1:n.251T>A
ENST00000674765.1:c.933T>A	ENSP00000501811.1:p.Ile311=
ENST00000675112.1:n.1234T>A
ENST00000676254.1:n.1382T>A
ENST00000426263.7:c.933T>A	ENSP00000416293.2:p.Ile311=
ENST00000439722.2:c.812T>A	ENSP00000395521.2:n.812T>A
ENST00000475162.3:c.415+1377T>A
ENST00000630287.2:c.*248T>A	ENSP00000486694.1:n.*248T>A
NM_006516.2:c.933T>A	NP_006507.2:p.Ile311=
NM_006516.3:c.933T>A	NP_006507.2:p.Ile311=
NM_006516.4:c.933T>A MANE Select	NP_006507.2:p.Ile311=