Canonical Allele Identifier: CA1165411548

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42927712C= , CM000663.2:g.42927712C=	GRCh38
NC_000001.10:g.43393383C= , CM000663.1:g.43393383C=	GRCh37
NC_000001.9:g.43165970C=	NCBI36
NG_008232.1:g.36465G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.1171G= MANE Select	ENSP00000416293.2:p.Val391=
ENST00000674545.1:n.1788G=
ENST00000674765.1:c.1030-855G=	ENSP00000501811.1:n.1030-855G=
ENST00000675112.1:n.1472G=
ENST00000676254.1:n.1620G=
ENST00000426263.7:c.1171G=	ENSP00000416293.2:p.Val391=
ENST00000475162.3:c.416-734G=
ENST00000630287.2:c.*486G=	ENSP00000486694.1:n.*486G=
NM_006516.2:c.1171G=	NP_006507.2:p.Val391=
NM_006516.3:c.1171G=	NP_006507.2:p.Val391=
NM_006516.4:c.1171G= MANE Select	NP_006507.2:p.Val391=