Canonical Allele Identifier: CA318449

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 207202
• ClinVar RCV Id: RCV000189367 ; RCV002247611 ; RCV003517145 ; RCV003445651
• dbSNP Id: rs796053254
• gnomAD v4: 1-42929210-C-T
• MyVariant Identifiers: chr1:g.43394881C>T (hg19) ; chr1:g.42929210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929210C>T , CM000663.2:g.42929210C>T	GRCh38
NC_000001.10:g.43394881C>T , CM000663.1:g.43394881C>T	GRCh37
NC_000001.9:g.43167468C>T	NCBI36
NG_008232.1:g.34967G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.972G>A MANE Select	ENSP00000416293.2:p.Ser324=
ENST00000674545.1:n.290G>A
ENST00000674765.1:c.972G>A	ENSP00000501811.1:p.Ser324=
ENST00000675112.1:n.1273G>A
ENST00000676254.1:n.1421G>A
ENST00000426263.7:c.972G>A	ENSP00000416293.2:p.Ser324=
ENST00000439722.2:c.851G>A	ENSP00000395521.2:n.851G>A
ENST00000475162.3:c.415+1416G>A
ENST00000630287.2:c.*287G>A	ENSP00000486694.1:n.*287G>A
NM_006516.2:c.972G>A	NP_006507.2:p.Ser324=
NM_006516.3:c.972G>A	NP_006507.2:p.Ser324=
NM_006516.4:c.972G>A MANE Select	NP_006507.2:p.Ser324=