Canonical Allele Identifier: CA339957449

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395315G>C (hg19) ; chr1:g.42929644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929644G>C , CM000663.2:g.42929644G>C	GRCh38
NC_000001.10:g.43395315G>C , CM000663.1:g.43395315G>C	GRCh37
NC_000001.9:g.43167902G>C	NCBI36
NG_008232.1:g.34533C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.816C>G MANE Select	ENSP00000416293.2:p.Ile272Met
ENST00000669445.1:c.146C>G
ENST00000674765.1:c.816C>G	ENSP00000501811.1:p.Ile272Met
ENST00000675112.1:n.839C>G
ENST00000676254.1:n.1265C>G
ENST00000426263.7:c.816C>G	ENSP00000416293.2:p.Ile272Met
ENST00000439722.2:c.695C>G	ENSP00000395521.2:n.695C>G
ENST00000475162.3:c.415+982C>G
ENST00000630287.2:c.*131C>G	ENSP00000486694.1:n.*131C>G
NM_006516.2:c.816C>G	NP_006507.2:p.Ile272Met
NM_006516.3:c.816C>G	NP_006507.2:p.Ile272Met
NM_006516.4:c.816C>G MANE Select	NP_006507.2:p.Ile272Met