Canonical Allele Identifier: CA1165412339
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929620C= , CM000663.2:g.42929620C= GRCh38
NC_000001.10:g.43395291C= , CM000663.1:g.43395291C= GRCh37
NC_000001.9:g.43167878C= NCBI36
NG_008232.1:g.34557G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.840G= MANE Select ENSP00000416293.2:p.Leu280=
ENST00000674765.1:c.840G= ENSP00000501811.1:p.Leu280=
ENST00000675112.1:n.863G=
ENST00000676254.1:n.1289G=
ENST00000426263.7:c.840G= ENSP00000416293.2:p.Leu280=
ENST00000439722.2:c.719G= ENSP00000395521.2:n.719G=
ENST00000475162.3:c.415+1006G=
ENST00000630287.2:c.*155G= ENSP00000486694.1:n.*155G=
NM_006516.2:c.840G= NP_006507.2:p.Leu280=
NM_006516.3:c.840G= NP_006507.2:p.Leu280=
NM_006516.4:c.840G= MANE Select NP_006507.2:p.Leu280=