Canonical Allele Identifier: CA522496340

Gene: SLC2A1

Linked Data

• dbSNP Id: rs1269680088
• gnomAD v2: 1-43394813-C-T
• gnomAD v3: 1-42929142-C-T
• gnomAD v4: 1-42929142-C-T
• MyVariant Identifiers: chr1:g.43394813C>T (hg19) ; chr1:g.42929142C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929142C>T , CM000663.2:g.42929142C>T	GRCh38
NC_000001.10:g.43394813C>T , CM000663.1:g.43394813C>T	GRCh37
NC_000001.9:g.43167400C>T	NCBI36
NG_008232.1:g.35035G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+68G>A MANE Select	ENSP00000416293.2:n.972+68G>A
ENST00000674545.1:n.358G>A
ENST00000674765.1:c.972+68G>A	ENSP00000501811.1:n.972+68G>A
ENST00000675112.1:n.1273+68G>A
ENST00000676254.1:n.1421+68G>A
ENST00000426263.7:c.972+68G>A	ENSP00000416293.2:n.972+68G>A
ENST00000439722.2:c.851+68G>A	ENSP00000395521.2:n.851+68G>A
ENST00000475162.3:c.415+1484G>A
ENST00000630287.2:c.*287+68G>A	ENSP00000486694.1:n.*287+68G>A
NM_006516.2:c.972+68G>A	NP_006507.2:n.972+68G>A
NM_006516.3:c.972+68G>A	NP_006507.2:n.972+68G>A
NM_006516.4:c.972+68G>A MANE Select	NP_006507.2:n.972+68G>A