Canonical Allele Identifier: CA1165412042

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42928935C= , CM000663.2:g.42928935C=	GRCh38
NC_000001.10:g.43394606C= , CM000663.1:g.43394606C=	GRCh37
NC_000001.9:g.43167193C=	NCBI36
NG_008232.1:g.35242G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1071G= MANE Select	ENSP00000416293.2:p.Leu357=
ENST00000674545.1:n.565G=
ENST00000674765.1:c.1029+42G=	ENSP00000501811.1:n.1029+42G=
ENST00000675112.1:n.1372G=
ENST00000676254.1:n.1520G=
ENST00000426263.7:c.1071G=	ENSP00000416293.2:p.Leu357=
ENST00000475162.3:c.415+1691G=
ENST00000630287.2:c.*386G=	ENSP00000486694.1:n.*386G=
NM_006516.2:c.1071G=	NP_006507.2:p.Leu357=
NM_006516.3:c.1071G=	NP_006507.2:p.Leu357=
NM_006516.4:c.1071G= MANE Select	NP_006507.2:p.Leu357=