Canonical Allele Identifier: CA21251375

Gene: SLC2A1

Linked Data

• ClinVar Variation Id: 1560104
• ClinVar RCV Id: RCV002195416
• dbSNP Id: rs1004623203
• gnomAD v4: 1-42929883-C-T
• MyVariant Identifiers: chr1:g.43395554C>T (hg19) ; chr1:g.42929883C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.42929883C>T , CM000663.2:g.42929883C>T	GRCh38
NC_000001.10:g.43395554C>T , CM000663.1:g.43395554C>T	GRCh37
NC_000001.9:g.43168141C>T	NCBI36
NG_008232.1:g.34294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426263.10:c.669G>A MANE Select	ENSP00000416293.2:p.Arg223=
ENST00000669445.1:c.46G>A
ENST00000674765.1:c.669G>A	ENSP00000501811.1:p.Arg223=
ENST00000675112.1:n.692G>A
ENST00000676254.1:n.1118G>A
ENST00000426263.7:c.669G>A	ENSP00000416293.2:p.Arg223=
ENST00000439722.2:c.548G>A	ENSP00000395521.2:n.548G>A
ENST00000475162.3:c.415+743G>A
ENST00000630287.2:c.517-103G>A	ENSP00000486694.1:n.517-103G>A
NM_006516.2:c.669G>A	NP_006507.2:p.Arg223=
NM_006516.3:c.669G>A	NP_006507.2:p.Arg223=
NM_006516.4:c.669G>A MANE Select	NP_006507.2:p.Arg223=