Canonical Allele Identifier: CA019003

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928941T>C , CM000663.2:g.42928941T>C	GRCh38
NC_000001.10:g.43394612T>C , CM000663.1:g.43394612T>C	GRCh37
NC_000001.9:g.43167199T>C	NCBI36
NG_008232.1:g.35236A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1065A>G MANE Select	ENSP00000416293.2:p.Leu355=
ENST00000674545.1:n.559A>G
ENST00000674765.1:c.1029+36A>G	ENSP00000501811.1:n.1029+36A>G
ENST00000675112.1:n.1366A>G
ENST00000676254.1:n.1514A>G
ENST00000426263.7:c.1065A>G	ENSP00000416293.2:p.Leu355=
ENST00000475162.3:c.415+1685A>G
ENST00000630287.2:c.*380A>G	ENSP00000486694.1:n.*380A>G
NM_006516.2:c.1065A>G	NP_006507.2:p.Leu355=
NM_006516.3:c.1065A>G	NP_006507.2:p.Leu355=
NM_006516.4:c.1065A>G MANE Select	NP_006507.2:p.Leu355=