Canonical Allele Identifier: CA1165412358
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929681A= , CM000663.2:g.42929681A= GRCh38
NC_000001.10:g.43395352A= , CM000663.1:g.43395352A= GRCh37
NC_000001.9:g.43167939A= NCBI36
NG_008232.1:g.34496T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.779T= MANE Select ENSP00000416293.2:p.Leu260=
ENST00000669445.1:c.109T=
ENST00000674765.1:c.779T= ENSP00000501811.1:p.Leu260=
ENST00000675112.1:n.802T=
ENST00000676254.1:n.1228T=
ENST00000426263.7:c.779T= ENSP00000416293.2:p.Leu260=
ENST00000439722.2:c.658T= ENSP00000395521.2:n.658T=
ENST00000475162.3:c.415+945T=
ENST00000630287.2:c.*94T= ENSP00000486694.1:n.*94T=
NM_006516.2:c.779T= NP_006507.2:p.Leu260=
NM_006516.3:c.779T= NP_006507.2:p.Leu260=
NM_006516.4:c.779T= MANE Select NP_006507.2:p.Leu260=