Canonical Allele Identifier: CA1165412345

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929652G= , CM000663.2:g.42929652G=	GRCh38
NC_000001.10:g.43395323G= , CM000663.1:g.43395323G=	GRCh37
NC_000001.9:g.43167910G=	NCBI36
NG_008232.1:g.34525C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.808C= MANE Select	ENSP00000416293.2:p.Gln270=
ENST00000669445.1:c.138C=
ENST00000674765.1:c.808C=	ENSP00000501811.1:p.Gln270=
ENST00000675112.1:n.831C=
ENST00000676254.1:n.1257C=
ENST00000426263.7:c.808C=	ENSP00000416293.2:p.Gln270=
ENST00000439722.2:c.687C=	ENSP00000395521.2:n.687C=
ENST00000475162.3:c.415+974C=
ENST00000630287.2:c.*123C=	ENSP00000486694.1:n.*123C=
NM_006516.2:c.808C=	NP_006507.2:p.Gln270=
NM_006516.3:c.808C=	NP_006507.2:p.Gln270=
NM_006516.4:c.808C= MANE Select	NP_006507.2:p.Gln270=