Canonical Allele Identifier: CA21250202

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929005C>T , CM000663.2:g.42929005C>T	GRCh38
NC_000001.10:g.43394676C>T , CM000663.1:g.43394676C>T	GRCh37
NC_000001.9:g.43167263C>T	NCBI36
NG_008232.1:g.35172G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1001G>A MANE Select	NP_006507.2:p.Arg334Gln
ENST00000426263.10:c.1001G>A MANE Select	ENSP00000416293.2:p.Arg334Gln
NM_006516.2:c.1001G>A	NP_006507.2:p.Arg334Gln
NM_006516.3:c.1001G>A	NP_006507.2:p.Arg334Gln
ENST00000426263.7:c.1001G>A	ENSP00000416293.2:p.Arg334Gln
ENST00000475162.3:c.415+1621G>A
ENST00000630287.2:c.*316G>A	ENSP00000486694.1:n.*316G>A
ENST00000674545.1:n.495G>A
ENST00000674765.1:c.1001G>A	ENSP00000501811.1:p.Arg334Gln
ENST00000675112.1:n.1302G>A
ENST00000676254.1:n.1450G>A