Canonical Allele Identifier: CA1165412044

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928937G= , CM000663.2:g.42928937G=	GRCh38
NC_000001.10:g.43394608G= , CM000663.1:g.43394608G=	GRCh37
NC_000001.9:g.43167195G=	NCBI36
NG_008232.1:g.35240C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1069C= MANE Select	ENSP00000416293.2:p.Leu357=
ENST00000674545.1:n.563C=
ENST00000674765.1:c.1029+40C=	ENSP00000501811.1:n.1029+40C=
ENST00000675112.1:n.1370C=
ENST00000676254.1:n.1518C=
ENST00000426263.7:c.1069C=	ENSP00000416293.2:p.Leu357=
ENST00000475162.3:c.415+1689C=
ENST00000630287.2:c.*384C=	ENSP00000486694.1:n.*384C=
NM_006516.2:c.1069C=	NP_006507.2:p.Leu357=
NM_006516.3:c.1069C=	NP_006507.2:p.Leu357=
NM_006516.4:c.1069C= MANE Select	NP_006507.2:p.Leu357=