Canonical Allele Identifier: CA417408169

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43394627G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928956G>C , CM000663.2:g.42928956G>C	GRCh38
NC_000001.10:g.43394627G>C , CM000663.1:g.43394627G>C	GRCh37
NC_000001.9:g.43167214G>C	NCBI36
NG_008232.1:g.35221C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1050C>G MANE Select	ENSP00000416293.2:p.Leu350=
ENST00000674545.1:n.544C>G
ENST00000674765.1:c.1029+21C>G	ENSP00000501811.1:n.1029+21C>G
ENST00000675112.1:n.1351C>G
ENST00000676254.1:n.1499C>G
ENST00000426263.7:c.1050C>G	ENSP00000416293.2:p.Leu350=
ENST00000475162.3:c.415+1670C>G
ENST00000630287.2:c.*365C>G	ENSP00000486694.1:n.*365C>G
NM_006516.2:c.1050C>G	NP_006507.2:p.Leu350=
NM_006516.3:c.1050C>G	NP_006507.2:p.Leu350=
NM_006516.4:c.1050C>G MANE Select	NP_006507.2:p.Leu350=