Canonical Allele Identifier: CA339957997

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395390C>A (hg19) ; chr1:g.42929719C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929719C>A , CM000663.2:g.42929719C>A	GRCh38
NC_000001.10:g.43395390C>A , CM000663.1:g.43395390C>A	GRCh37
NC_000001.9:g.43167977C>A	NCBI36
NG_008232.1:g.34458G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.741G>T MANE Select	ENSP00000416293.2:p.Glu247Asp
ENST00000669445.1:c.71G>T
ENST00000674765.1:c.741G>T	ENSP00000501811.1:p.Glu247Asp
ENST00000675112.1:n.764G>T
ENST00000676254.1:n.1190G>T
ENST00000426263.7:c.741G>T	ENSP00000416293.2:p.Glu247Asp
ENST00000439722.2:c.620G>T	ENSP00000395521.2:n.620G>T
ENST00000475162.3:c.415+907G>T
ENST00000630287.2:c.*56G>T	ENSP00000486694.1:n.*56G>T
NM_006516.2:c.741G>T	NP_006507.2:p.Glu247Asp
NM_006516.3:c.741G>T	NP_006507.2:p.Glu247Asp
NM_006516.4:c.741G>T MANE Select	NP_006507.2:p.Glu247Asp