Canonical Allele Identifier: CA1165412357
Gene: SLC2A1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42929674C= , CM000663.2:g.42929674C= GRCh38
NC_000001.10:g.43395345C= , CM000663.1:g.43395345C= GRCh37
NC_000001.9:g.43167932C= NCBI36
NG_008232.1:g.34503G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.786G= MANE Select ENSP00000416293.2:p.Leu262=
ENST00000669445.1:c.116G=
ENST00000674765.1:c.786G= ENSP00000501811.1:p.Leu262=
ENST00000675112.1:n.809G=
ENST00000676254.1:n.1235G=
ENST00000426263.7:c.786G= ENSP00000416293.2:p.Leu262=
ENST00000439722.2:c.665G= ENSP00000395521.2:n.665G=
ENST00000475162.3:c.415+952G=
ENST00000630287.2:c.*101G= ENSP00000486694.1:n.*101G=
NM_006516.2:c.786G= NP_006507.2:p.Leu262=
NM_006516.3:c.786G= NP_006507.2:p.Leu262=
NM_006516.4:c.786G= MANE Select NP_006507.2:p.Leu262=