Canonical Allele Identifier: CA339960509

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396347G>C (hg19) ; chr1:g.42930676G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930676G>C , CM000663.2:g.42930676G>C	GRCh38
NC_000001.10:g.43396347G>C , CM000663.1:g.43396347G>C	GRCh37
NC_000001.9:g.43168934G>C	NCBI36
NG_008232.1:g.33501C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.466C>G MANE Select	ENSP00000416293.2:p.Leu156Val
ENST00000674765.1:c.466C>G	ENSP00000501811.1:p.Leu156Val
ENST00000675112.1:n.489C>G
ENST00000676254.1:n.915C>G
ENST00000426263.7:c.466C>G	ENSP00000416293.2:p.Leu156Val
ENST00000439722.2:c.345C>G	ENSP00000395521.2:n.345C>G
ENST00000475162.3:c.365C>G
ENST00000625233.2:n.674C>G
ENST00000630287.2:c.466C>G	ENSP00000486694.1:p.Leu156Val
NM_006516.2:c.466C>G	NP_006507.2:p.Leu156Val
NM_006516.3:c.466C>G	NP_006507.2:p.Leu156Val
NM_006516.4:c.466C>G MANE Select	NP_006507.2:p.Leu156Val