Canonical Allele Identifier: CA350100941
Gene: IDH1 HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000345146.7:c.410A>C MANE Select ENSP00000260985.2:p.Asp137Ala
ENST00000345146.6:c.410A>C ENSP00000260985.2:p.Asp137Ala
ENST00000415282.5:c.410A>C ENSP00000391075.1:p.Asp137Ala
ENST00000415913.5:c.410A>C ENSP00000390265.1:p.Asp137Ala
ENST00000446179.5:c.410A>C ENSP00000410513.1:p.Asp137Ala
ENST00000462386.5:n.623A>C
NM_001282386.1:c.410A>C , LRG_610t3:c.410A>C NP_001269315.1:p.Asp137Ala
NM_001282387.1:c.410A>C , LRG_610t2:c.410A>C NP_001269316.1:p.Asp137Ala
NM_005896.3:c.410A>C , LRG_610t1:c.410A>C NP_005887.2:p.Asp137Ala
NM_005896.4:c.410A>C MANE Select NP_005887.2:p.Asp137Ala