Canonical Allele Identifier: CA019162
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16118
ClinVar RCV Id: RCV000017498 RCV000030838 RCV000030839 RCV000081431 RCV000546969 RCV000824987
dbSNP Id: rs80359818
gnomAD v2: 1-43396437-G-A
gnomAD v4: 1-42930766-G-A
MyVariant Identifiers: chr1:g.43396437G>A (hg19) chr1:g.42930766G>A (hg38)
PubMed: PMID:18606970 PMID:19798636 PMID:21832227 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930766G>A , CM000663.2:g.42930766G>A GRCh38
NC_000001.10:g.43396437G>A , CM000663.1:g.43396437G>A GRCh37
NC_000001.9:g.43169024G>A NCBI36
NG_008232.1:g.33411C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.376C>T MANE Select ENSP00000416293.2:p.Arg126Cys
ENST00000674765.1:c.376C>T ENSP00000501811.1:p.Arg126Cys
ENST00000675112.1:n.399C>T
ENST00000676254.1:n.825C>T
ENST00000372500.4:c.280C>T ENSP00000361578.4:p.Arg94Cys
ENST00000426263.7:c.376C>T ENSP00000416293.2:p.Arg126Cys
ENST00000439722.2:c.255C>T ENSP00000395521.2:n.255C>T
ENST00000475162.3:c.275C>T
ENST00000625233.2:n.584C>T
ENST00000630287.2:c.376C>T ENSP00000486694.1:p.Arg126Cys
NM_006516.2:c.376C>T NP_006507.2:p.Arg126Cys
NM_006516.3:c.376C>T NP_006507.2:p.Arg126Cys
NM_006516.4:c.376C>T MANE Select NP_006507.2:p.Arg126Cys
Search 100 bp 5'
Search 100 bp 3'