Canonical Allele Identifier: CA16602376

Gene: IDH1

Linked Data

• ClinVar Variation Id: 375893
• ClinVar RCV Id: RCV000418324 ; RCV000425839 ; RCV000424342 ; RCV000426812 ; RCV000424724 ; RCV000431514 ; RCV000432144 ; RCV000440287 ; RCV000423616 ; RCV000435988 ; RCV000445051 ; RCV000442342 ; RCV000430064 ; RCV000434628 ; RCV000437066 ; RCV000441330 ; RCV003884519
• dbSNP Id: rs121913499
• gnomAD v4: 2-208248389-G-T
• COSMIC: COSM28748
• MyVariant Identifiers: chr2:g.209113113G>T (hg19) ; chr2:g.208248389G>T (hg38)
• CIViC: CA16602376
• PubMed: PMID:19657110 ; PMID:21352804 ; PMID:22160010 ; PMID:22417203 ; PMID:22898539 ; PMID:25157968 ; PMID:26619011

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208248389G>T , CM000664.2:g.208248389G>T	GRCh38
NC_000002.11:g.209113113G>T , CM000664.1:g.209113113G>T	GRCh37
NC_000002.10:g.208821358G>T	NCBI36
NG_023319.2:g.22686C>A , LRG_610:g.22686C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345146.7:c.394C>A MANE Select	ENSP00000260985.2:p.Arg132Ser
ENST00000345146.6:c.394C>A	ENSP00000260985.2:p.Arg132Ser
ENST00000415282.5:c.394C>A	ENSP00000391075.1:p.Arg132Ser
ENST00000415913.5:c.394C>A	ENSP00000390265.1:p.Arg132Ser
ENST00000446179.5:c.394C>A	ENSP00000410513.1:p.Arg132Ser
ENST00000462386.5:n.607C>A
NM_001282386.1:c.394C>A , LRG_610t3:c.394C>A	NP_001269315.1:p.Arg132Ser
NM_001282387.1:c.394C>A , LRG_610t2:c.394C>A	NP_001269316.1:p.Arg132Ser
NM_005896.3:c.394C>A , LRG_610t1:c.394C>A	NP_005887.2:p.Arg132Ser
NM_005896.4:c.394C>A MANE Select	NP_005887.2:p.Arg132Ser