Canonical Allele Identifier: CA417409628

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42930667-G-A
• MyVariant Identifiers: chr1:g.43396338G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42930667G>A , CM000663.2:g.42930667G>A	GRCh38
NC_000001.10:g.43396338G>A , CM000663.1:g.43396338G>A	GRCh37
NC_000001.9:g.43168925G>A	NCBI36
NG_008232.1:g.33510C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.475C>T MANE Select	ENSP00000416293.2:p.Leu159=
ENST00000674765.1:c.475C>T	ENSP00000501811.1:p.Leu159=
ENST00000675112.1:n.498C>T
ENST00000676254.1:n.924C>T
ENST00000426263.7:c.475C>T	ENSP00000416293.2:p.Leu159=
ENST00000439722.2:c.354C>T	ENSP00000395521.2:n.354C>T
ENST00000475162.3:c.374C>T
ENST00000625233.2:n.683C>T
ENST00000630287.2:c.475C>T	ENSP00000486694.1:p.Leu159=
NM_006516.2:c.475C>T	NP_006507.2:p.Leu159=
NM_006516.3:c.475C>T	NP_006507.2:p.Leu159=
NM_006516.4:c.475C>T MANE Select	NP_006507.2:p.Leu159=