Canonical Allele Identifier: CA417409501

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396306G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930635G>T , CM000663.2:g.42930635G>T	GRCh38
NC_000001.10:g.43396306G>T , CM000663.1:g.43396306G>T	GRCh37
NC_000001.9:g.43168893G>T	NCBI36
NG_008232.1:g.33542C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000426263.10:c.507C>A MANE Select	ENSP00000416293.2:p.Leu169=
ENST00000674765.1:c.507C>A	ENSP00000501811.1:p.Leu169=
ENST00000675112.1:n.530C>A
ENST00000676254.1:n.956C>A
ENST00000426263.7:c.507C>A	ENSP00000416293.2:p.Leu169=
ENST00000439722.2:c.386C>A	ENSP00000395521.2:n.386C>A
ENST00000475162.3:c.406C>A
ENST00000625233.2:n.715C>A
ENST00000630287.2:c.507C>A	ENSP00000486694.1:p.Leu169=
NM_006516.2:c.507C>A	NP_006507.2:p.Leu169=
NM_006516.3:c.507C>A	NP_006507.2:p.Leu169=
NM_006516.4:c.507C>A MANE Select	NP_006507.2:p.Leu169=