Canonical Allele Identifier: CA339958004

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 2733880
• ClinVar RCV Id: RCV003518723
• MyVariant Identifiers: chr1:g.43395391T>C (hg19) ; chr1:g.42929720T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929720T>C , CM000663.2:g.42929720T>C	GRCh38
NC_000001.10:g.43395391T>C , CM000663.1:g.43395391T>C	GRCh37
NC_000001.9:g.43167978T>C	NCBI36
NG_008232.1:g.34457A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.740A>G MANE Select	ENSP00000416293.2:p.Glu247Gly
ENST00000669445.1:c.70A>G
ENST00000674765.1:c.740A>G	ENSP00000501811.1:p.Glu247Gly
ENST00000675112.1:n.763A>G
ENST00000676254.1:n.1189A>G
ENST00000426263.7:c.740A>G	ENSP00000416293.2:p.Glu247Gly
ENST00000439722.2:c.619A>G	ENSP00000395521.2:n.619A>G
ENST00000475162.3:c.415+906A>G
ENST00000630287.2:c.*55A>G	ENSP00000486694.1:n.*55A>G
NM_006516.2:c.740A>G	NP_006507.2:p.Glu247Gly
NM_006516.3:c.740A>G	NP_006507.2:p.Glu247Gly
NM_006516.4:c.740A>G MANE Select	NP_006507.2:p.Glu247Gly