Canonical Allele Identifier: CA339960503

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396346A>C (hg19) ; chr1:g.42930675A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930675A>C , CM000663.2:g.42930675A>C	GRCh38
NC_000001.10:g.43396346A>C , CM000663.1:g.43396346A>C	GRCh37
NC_000001.9:g.43168933A>C	NCBI36
NG_008232.1:g.33502T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.467T>G MANE Select	ENSP00000416293.2:p.Leu156Arg
ENST00000674765.1:c.467T>G	ENSP00000501811.1:p.Leu156Arg
ENST00000675112.1:n.490T>G
ENST00000676254.1:n.916T>G
ENST00000426263.7:c.467T>G	ENSP00000416293.2:p.Leu156Arg
ENST00000439722.2:c.346T>G	ENSP00000395521.2:n.346T>G
ENST00000475162.3:c.366T>G
ENST00000625233.2:n.675T>G
ENST00000630287.2:c.467T>G	ENSP00000486694.1:p.Leu156Arg
NM_006516.2:c.467T>G	NP_006507.2:p.Leu156Arg
NM_006516.3:c.467T>G	NP_006507.2:p.Leu156Arg
NM_006516.4:c.467T>G MANE Select	NP_006507.2:p.Leu156Arg