Canonical Allele Identifier: CA350100940
Gene: IDH1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248373T>A , CM000664.2:g.208248373T>A GRCh38
NC_000002.11:g.209113097T>A , CM000664.1:g.209113097T>A GRCh37
NC_000002.10:g.208821342T>A NCBI36
NG_023319.2:g.22702A>T , LRG_610:g.22702A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.410A>T MANE Select ENSP00000260985.2:p.Asp137Val
ENST00000345146.6:c.410A>T ENSP00000260985.2:p.Asp137Val
ENST00000415282.5:c.410A>T ENSP00000391075.1:p.Asp137Val
ENST00000415913.5:c.410A>T ENSP00000390265.1:p.Asp137Val
ENST00000446179.5:c.410A>T ENSP00000410513.1:p.Asp137Val
ENST00000462386.5:n.623A>T
NM_001282386.1:c.410A>T , LRG_610t3:c.410A>T NP_001269315.1:p.Asp137Val
NM_001282387.1:c.410A>T , LRG_610t2:c.410A>T NP_001269316.1:p.Asp137Val
NM_005896.3:c.410A>T , LRG_610t1:c.410A>T NP_005887.2:p.Asp137Val
NM_005896.4:c.410A>T MANE Select NP_005887.2:p.Asp137Val