Canonical Allele Identifier: CA339957912

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395371C>G (hg19) ; chr1:g.42929700C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929700C>G , CM000663.2:g.42929700C>G	GRCh38
NC_000001.10:g.43395371C>G , CM000663.1:g.43395371C>G	GRCh37
NC_000001.9:g.43167958C>G	NCBI36
NG_008232.1:g.34477G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.760G>C MANE Select	ENSP00000416293.2:p.Glu254Gln
ENST00000669445.1:c.90G>C
ENST00000674765.1:c.760G>C	ENSP00000501811.1:p.Glu254Gln
ENST00000675112.1:n.783G>C
ENST00000676254.1:n.1209G>C
ENST00000426263.7:c.760G>C	ENSP00000416293.2:p.Glu254Gln
ENST00000439722.2:c.639G>C	ENSP00000395521.2:n.639G>C
ENST00000475162.3:c.415+926G>C
ENST00000630287.2:c.*75G>C	ENSP00000486694.1:n.*75G>C
NM_006516.2:c.760G>C	NP_006507.2:p.Glu254Gln
NM_006516.3:c.760G>C	NP_006507.2:p.Glu254Gln
NM_006516.4:c.760G>C MANE Select	NP_006507.2:p.Glu254Gln