Canonical Allele Identifier: CA16603717
Gene: SLC2A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 379258
ClinVar RCV Id: RCV000429855 RCV001865327 RCV002468576
dbSNP Id: rs1057520545
MyVariant Identifiers: chr1:g.43396320C>T (hg19) chr1:g.42930649C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.42930649C>T , CM000663.2:g.42930649C>T GRCh38
NC_000001.10:g.43396320C>T , CM000663.1:g.43396320C>T GRCh37
NC_000001.9:g.43168907C>T NCBI36
NG_008232.1:g.33528G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000426263.10:c.493G>A MANE Select ENSP00000416293.2:p.Val165Ile
ENST00000674765.1:c.493G>A ENSP00000501811.1:p.Val165Ile
ENST00000675112.1:n.516G>A
ENST00000676254.1:n.942G>A
ENST00000426263.7:c.493G>A ENSP00000416293.2:p.Val165Ile
ENST00000439722.2:c.372G>A ENSP00000395521.2:n.372G>A
ENST00000475162.3:c.392G>A
ENST00000625233.2:n.701G>A
ENST00000630287.2:c.493G>A ENSP00000486694.1:p.Val165Ile
NM_006516.2:c.493G>A NP_006507.2:p.Val165Ile
NM_006516.3:c.493G>A NP_006507.2:p.Val165Ile
NM_006516.4:c.493G>A MANE Select NP_006507.2:p.Val165Ile
Search 100 bp 5'
Search 100 bp 3'