Canonical Allele Identifier: CA417409056

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394923G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929252G>T , CM000663.2:g.42929252G>T	GRCh38
NC_000001.10:g.43394923G>T , CM000663.1:g.43394923G>T	GRCh37
NC_000001.9:g.43167510G>T	NCBI36
NG_008232.1:g.34925C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.930C>A MANE Select	ENSP00000416293.2:p.Thr310=
ENST00000674545.1:n.248C>A
ENST00000674765.1:c.930C>A	ENSP00000501811.1:p.Thr310=
ENST00000675112.1:n.1231C>A
ENST00000676254.1:n.1379C>A
ENST00000426263.7:c.930C>A	ENSP00000416293.2:p.Thr310=
ENST00000439722.2:c.809C>A	ENSP00000395521.2:n.809C>A
ENST00000475162.3:c.415+1374C>A
ENST00000630287.2:c.*245C>A	ENSP00000486694.1:n.*245C>A
NM_006516.2:c.930C>A	NP_006507.2:p.Thr310=
NM_006516.3:c.930C>A	NP_006507.2:p.Thr310=
NM_006516.4:c.930C>A MANE Select	NP_006507.2:p.Thr310=