Canonical Allele Identifier: CA019072
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 16120
ClinVar RCV Id: RCV000017500 RCV001548577 RCV002271988
dbSNP Id: rs267607059
gnomAD v4: 1-42927118-G-A
MyVariant Identifiers: chr1:g.43392789G>A (hg19) chr1:g.42927118G>A (hg38)
PubMed: PMID:20221955
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42927118G>A , CM000663.2:g.42927118G>A GRCh38
NC_000001.10:g.43392789G>A , CM000663.1:g.43392789G>A GRCh37
NC_000001.9:g.43165376G>A NCBI36
NG_008232.1:g.37059C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000426263.10:c.1402C>T MANE Select ENSP00000416293.2:p.Arg468Trp
ENST00000674545.1:n.2019C>T
ENST00000674765.1:c.1030-261C>T ENSP00000501811.1:n.1030-261C>T
ENST00000675112.1:n.1703C>T
ENST00000676254.1:n.1851C>T
ENST00000426263.7:c.1402C>T ENSP00000416293.2:p.Arg468Trp
ENST00000475162.3:c.416-140C>T
ENST00000630287.2:c.*717C>T ENSP00000486694.1:n.*717C>T
NM_006516.2:c.1402C>T NP_006507.2:p.Arg468Trp
NM_006516.3:c.1402C>T NP_006507.2:p.Arg468Trp
NM_006516.4:c.1402C>T MANE Select NP_006507.2:p.Arg468Trp
Search 100 bp 5'
Search 100 bp 3'