Canonical Allele Identifier: CA417543489

Gene: SLC2A1

Linked Data

• gnomAD v4: 1-42929976-G-T
• MyVariant Identifiers: chr1:g.43395647G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929976G>T , CM000663.2:g.42929976G>T	GRCh38
NC_000001.10:g.43395647G>T , CM000663.1:g.43395647G>T	GRCh37
NC_000001.9:g.43168234G>T	NCBI36
NG_008232.1:g.34201C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.576C>A MANE Select	ENSP00000416293.2:p.Ile192=
ENST00000674765.1:c.576C>A	ENSP00000501811.1:p.Ile192=
ENST00000675112.1:n.599C>A
ENST00000676254.1:n.1025C>A
ENST00000426263.7:c.576C>A	ENSP00000416293.2:p.Ile192=
ENST00000439722.2:c.455C>A	ENSP00000395521.2:n.455C>A
ENST00000475162.3:c.415+650C>A
ENST00000630287.2:c.517-196C>A	ENSP00000486694.1:n.517-196C>A
NM_006516.2:c.576C>A	NP_006507.2:p.Ile192=
NM_006516.3:c.576C>A	NP_006507.2:p.Ile192=
NM_006516.4:c.576C>A MANE Select	NP_006507.2:p.Ile192=