Canonical Allele Identifier: CA1165411578

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927800T= , CM000663.2:g.42927800T=	GRCh38
NC_000001.10:g.43393471T= , CM000663.1:g.43393471T=	GRCh37
NC_000001.9:g.43166058T=	NCBI36
NG_008232.1:g.36377A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1083A= MANE Select	ENSP00000416293.2:p.Leu361=
ENST00000674545.1:n.1700A=
ENST00000674765.1:c.1030-943A=	ENSP00000501811.1:n.1030-943A=
ENST00000675112.1:n.1384A=
ENST00000676254.1:n.1532A=
ENST00000426263.7:c.1083A=	ENSP00000416293.2:p.Leu361=
ENST00000475162.3:c.416-822A=
ENST00000630287.2:c.*398A=	ENSP00000486694.1:n.*398A=
NM_006516.2:c.1083A=	NP_006507.2:p.Leu361=
NM_006516.3:c.1083A=	NP_006507.2:p.Leu361=
NM_006516.4:c.1083A= MANE Select	NP_006507.2:p.Leu361=