Canonical Allele Identifier: CA522805068

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1588179
• ClinVar RCV Id: RCV002116956
• dbSNP Id: rs781545555
• gnomAD v2: 1-43394861-G-T
• gnomAD v3: 1-42929190-G-T
• gnomAD v4: 1-42929190-G-T
• MyVariant Identifiers: chr1:g.43394861G>T (hg19) ; chr1:g.42929190G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929190G>T , CM000663.2:g.42929190G>T	GRCh38
NC_000001.10:g.43394861G>T , CM000663.1:g.43394861G>T	GRCh37
NC_000001.9:g.43167448G>T	NCBI36
NG_008232.1:g.34987C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972+20C>A MANE Select	ENSP00000416293.2:n.972+20C>A
ENST00000674545.1:n.310C>A
ENST00000674765.1:c.972+20C>A	ENSP00000501811.1:n.972+20C>A
ENST00000675112.1:n.1273+20C>A
ENST00000676254.1:n.1421+20C>A
ENST00000426263.7:c.972+20C>A	ENSP00000416293.2:n.972+20C>A
ENST00000439722.2:c.851+20C>A	ENSP00000395521.2:n.851+20C>A
ENST00000475162.3:c.415+1436C>A
ENST00000630287.2:c.*287+20C>A	ENSP00000486694.1:n.*287+20C>A
NM_006516.2:c.972+20C>A	NP_006507.2:n.972+20C>A
NM_006516.3:c.972+20C>A	NP_006507.2:n.972+20C>A
NM_006516.4:c.972+20C>A MANE Select	NP_006507.2:n.972+20C>A