Canonical Allele Identifier: CA16602372
Gene: IDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 375889
ClinVar RCV Id: RCV000418043 RCV000423104 RCV000424309 RCV000424554 RCV000425224 RCV000425475 RCV000430835 RCV000432682 RCV000433285 RCV000433807 RCV000435256 RCV000440464 RCV000441571 RCV000442225 RCV000445003
dbSNP Id: rs121913500
COSMIC: COSM28750
MyVariant Identifiers: chr2:g.209113112C>A (hg19) chr2:g.208248388C>A (hg38)
PubMed: PMID:22160010 PMID:22397365 PMID:22417203 PMID:22898539 PMID:26619011
CIViC: CA16602372
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248388C>A , CM000664.2:g.208248388C>A GRCh38
NC_000002.11:g.209113112C>A , CM000664.1:g.209113112C>A GRCh37
NC_000002.10:g.208821357C>A NCBI36
NG_023319.2:g.22687G>T , LRG_610:g.22687G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000345146.7:c.395G>T MANE Select ENSP00000260985.2:p.Arg132Leu
ENST00000345146.6:c.395G>T ENSP00000260985.2:p.Arg132Leu
ENST00000415282.5:c.395G>T ENSP00000391075.1:p.Arg132Leu
ENST00000415913.5:c.395G>T ENSP00000390265.1:p.Arg132Leu
ENST00000446179.5:c.395G>T ENSP00000410513.1:p.Arg132Leu
ENST00000462386.5:n.608G>T
NM_001282386.1:c.395G>T , LRG_610t3:c.395G>T NP_001269315.1:p.Arg132Leu
NM_001282387.1:c.395G>T , LRG_610t2:c.395G>T NP_001269316.1:p.Arg132Leu
NM_005896.3:c.395G>T , LRG_610t1:c.395G>T NP_005887.2:p.Arg132Leu
NM_005896.4:c.395G>T MANE Select NP_005887.2:p.Arg132Leu
Search 100 bp 5'
Search 100 bp 3'