Canonical Allele Identifier: CA339957592

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395331G>C (hg19) ; chr1:g.42929660G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929660G>C , CM000663.2:g.42929660G>C	GRCh38
NC_000001.10:g.43395331G>C , CM000663.1:g.43395331G>C	GRCh37
NC_000001.9:g.43167918G>C	NCBI36
NG_008232.1:g.34517C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.800C>G MANE Select	ENSP00000416293.2:p.Ala267Gly
ENST00000669445.1:c.130C>G
ENST00000674765.1:c.800C>G	ENSP00000501811.1:p.Ala267Gly
ENST00000675112.1:n.823C>G
ENST00000676254.1:n.1249C>G
ENST00000426263.7:c.800C>G	ENSP00000416293.2:p.Ala267Gly
ENST00000439722.2:c.679C>G	ENSP00000395521.2:n.679C>G
ENST00000475162.3:c.415+966C>G
ENST00000630287.2:c.*115C>G	ENSP00000486694.1:n.*115C>G
NM_006516.2:c.800C>G	NP_006507.2:p.Ala267Gly
NM_006516.3:c.800C>G	NP_006507.2:p.Ala267Gly
NM_006516.4:c.800C>G MANE Select	NP_006507.2:p.Ala267Gly