Canonical Allele Identifier: CA019112
Gene: SLC2A1 HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42931049C>T , CM000663.2:g.42931049C>T GRCh38
NC_000001.10:g.43396720C>T , CM000663.1:g.43396720C>T GRCh37
NC_000001.9:g.43169307C>T NCBI36
NG_008232.1:g.33128G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.272G>A MANE Select ENSP00000416293.2:p.Gly91Asp
ENST00000674765.1:c.272G>A ENSP00000501811.1:p.Gly91Asp
ENST00000675112.1:n.295G>A
ENST00000676254.1:n.721G>A
ENST00000372500.4:c.176G>A ENSP00000361578.4:p.Gly59Asp
ENST00000415851.6:n.489G>A
ENST00000426263.7:c.272G>A ENSP00000416293.2:p.Gly91Asp
ENST00000439722.2:c.77G>A ENSP00000395521.2:p.Gly26Asp
ENST00000475162.3:c.171G>A
ENST00000625233.2:n.480G>A
ENST00000630287.2:c.272G>A ENSP00000486694.1:p.Gly91Asp
NM_006516.2:c.272G>A NP_006507.2:p.Gly91Asp
NM_006516.3:c.272G>A NP_006507.2:p.Gly91Asp
NM_006516.4:c.272G>A MANE Select NP_006507.2:p.Gly91Asp