Canonical Allele Identifier: CA417543889

Gene: SLC2A1

Linked Data

• MyVariant Identifiers: chr1:g.43396444G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930773G>T , CM000663.2:g.42930773G>T	GRCh38
NC_000001.10:g.43396444G>T , CM000663.1:g.43396444G>T	GRCh37
NC_000001.9:g.43169031G>T	NCBI36
NG_008232.1:g.33404C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.369C>A MANE Select	ENSP00000416293.2:p.Ile123=
ENST00000674765.1:c.369C>A	ENSP00000501811.1:p.Ile123=
ENST00000675112.1:n.392C>A
ENST00000676254.1:n.818C>A
ENST00000372500.4:c.273C>A	ENSP00000361578.4:p.Ile91=
ENST00000426263.7:c.369C>A	ENSP00000416293.2:p.Ile123=
ENST00000439722.2:c.248C>A	ENSP00000395521.2:n.248C>A
ENST00000475162.3:c.268C>A
ENST00000625233.2:n.577C>A
ENST00000630287.2:c.369C>A	ENSP00000486694.1:p.Ile123=
NM_006516.2:c.369C>A	NP_006507.2:p.Ile123=
NM_006516.3:c.369C>A	NP_006507.2:p.Ile123=
NM_006516.4:c.369C>A MANE Select	NP_006507.2:p.Ile123=