Canonical Allele Identifier: CA803599

Gene: SLC2A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42931142G>A , CM000663.2:g.42931142G>A	GRCh38
NC_000001.10:g.43396813G>A , CM000663.1:g.43396813G>A	GRCh37
NC_000001.9:g.43169400G>A	NCBI36
NG_008232.1:g.33035C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_006516.4:c.179C>T MANE Select	NP_006507.2:p.Thr60Met
ENST00000426263.10:c.179C>T MANE Select	ENSP00000416293.2:p.Thr60Met
NM_006516.2:c.179C>T	NP_006507.2:p.Thr60Met
NM_006516.3:c.179C>T	NP_006507.2:p.Thr60Met
ENST00000372500.4:c.83C>T	ENSP00000361578.4:p.Thr28Met
ENST00000415851.6:n.396C>T
ENST00000426263.7:c.179C>T	ENSP00000416293.2:p.Thr60Met
ENST00000475162.3:c.78C>T
ENST00000625233.2:n.387C>T
ENST00000630287.2:c.179C>T	ENSP00000486694.1:p.Thr60Met
ENST00000674765.1:c.179C>T	ENSP00000501811.1:p.Thr60Met
ENST00000675112.1:n.202C>T
ENST00000676254.1:n.628C>T