Canonical Allele Identifier: CA417543500

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43395656C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929985C>T , CM000663.2:g.42929985C>T	GRCh38
NC_000001.10:g.43395656C>T , CM000663.1:g.43395656C>T	GRCh37
NC_000001.9:g.43168243C>T	NCBI36
NG_008232.1:g.34192G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.567G>A MANE Select	ENSP00000416293.2:p.Leu189=
ENST00000674765.1:c.567G>A	ENSP00000501811.1:p.Leu189=
ENST00000675112.1:n.590G>A
ENST00000676254.1:n.1016G>A
ENST00000426263.7:c.567G>A	ENSP00000416293.2:p.Leu189=
ENST00000439722.2:c.446G>A	ENSP00000395521.2:n.446G>A
ENST00000475162.3:c.415+641G>A
ENST00000630287.2:c.517-205G>A	ENSP00000486694.1:n.517-205G>A
NM_006516.2:c.567G>A	NP_006507.2:p.Leu189=
NM_006516.3:c.567G>A	NP_006507.2:p.Leu189=
NM_006516.4:c.567G>A MANE Select	NP_006507.2:p.Leu189=