Canonical Allele Identifier: CA019067

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927148G>A , CM000663.2:g.42927148G>A	GRCh38
NC_000001.10:g.43392819G>A , CM000663.1:g.43392819G>A	GRCh37
NC_000001.9:g.43165406G>A	NCBI36
NG_008232.1:g.37029C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.1372C>T MANE Select	NP_006507.2:p.Arg458Trp
ENST00000426263.10:c.1372C>T MANE Select	ENSP00000416293.2:p.Arg458Trp
NM_006516.2:c.1372C>T	NP_006507.2:p.Arg458Trp
NM_006516.3:c.1372C>T	NP_006507.2:p.Arg458Trp
ENST00000426263.7:c.1372C>T	ENSP00000416293.2:p.Arg458Trp
ENST00000475162.3:c.416-170C>T
ENST00000630287.2:c.*687C>T	ENSP00000486694.1:n.*687C>T
ENST00000674545.1:n.1989C>T
ENST00000674765.1:c.1030-291C>T	ENSP00000501811.1:n.1030-291C>T
ENST00000675112.1:n.1673C>T
ENST00000676254.1:n.1821C>T