Canonical Allele Identifier: CA339952848

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927117C>T , CM000663.2:g.42927117C>T	GRCh38
NC_000001.10:g.43392788C>T , CM000663.1:g.43392788C>T	GRCh37
NC_000001.9:g.43165375C>T	NCBI36
NG_008232.1:g.37060G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1403G>A MANE Select	NP_006507.2:p.Arg468Gln
ENST00000426263.10:c.1403G>A MANE Select	ENSP00000416293.2:p.Arg468Gln
NM_006516.2:c.1403G>A	NP_006507.2:p.Arg468Gln
NM_006516.3:c.1403G>A	NP_006507.2:p.Arg468Gln
ENST00000426263.7:c.1403G>A	ENSP00000416293.2:p.Arg468Gln
ENST00000475162.3:c.416-139G>A
ENST00000630287.2:c.*718G>A	ENSP00000486694.1:n.*718G>A
ENST00000674545.1:n.2020G>A
ENST00000674765.1:c.1030-260G>A	ENSP00000501811.1:n.1030-260G>A
ENST00000675112.1:n.1704G>A
ENST00000676254.1:n.1852G>A