Canonical Allele Identifier: CA339957758

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395350C>G (hg19) ; chr1:g.42929679C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929679C>G , CM000663.2:g.42929679C>G	GRCh38
NC_000001.10:g.43395350C>G , CM000663.1:g.43395350C>G	GRCh37
NC_000001.9:g.43167937C>G	NCBI36
NG_008232.1:g.34498G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.781G>C MANE Select	ENSP00000416293.2:p.Glu261Gln
ENST00000669445.1:c.111G>C
ENST00000674765.1:c.781G>C	ENSP00000501811.1:p.Glu261Gln
ENST00000675112.1:n.804G>C
ENST00000676254.1:n.1230G>C
ENST00000426263.7:c.781G>C	ENSP00000416293.2:p.Glu261Gln
ENST00000439722.2:c.660G>C	ENSP00000395521.2:n.660G>C
ENST00000475162.3:c.415+947G>C
ENST00000630287.2:c.*96G>C	ENSP00000486694.1:n.*96G>C
NM_006516.2:c.781G>C	NP_006507.2:p.Glu261Gln
NM_006516.3:c.781G>C	NP_006507.2:p.Glu261Gln
NM_006516.4:c.781G>C MANE Select	NP_006507.2:p.Glu261Gln