Canonical Allele Identifier: CA019072

Gene: SLC2A1

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

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