Canonical Allele Identifier: CA2843219106
Gene: IDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248325A>C , CM000664.2:g.208248325A>C GRCh38
NC_000002.11:g.209113049A>C , CM000664.1:g.209113049A>C GRCh37
NC_000002.10:g.208821294A>C NCBI36
NG_023319.2:g.22750T>G , LRG_610:g.22750T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.414+44T>G MANE Select ENSP00000260985.2:n.414+44T>G
ENST00000345146.6:c.414+44T>G ENSP00000260985.2:n.414+44T>G
ENST00000415282.5:c.414+44T>G ENSP00000391075.1:n.414+44T>G
ENST00000415913.5:c.414+44T>G ENSP00000390265.1:n.414+44T>G
ENST00000446179.5:c.414+44T>G ENSP00000410513.1:n.414+44T>G
ENST00000462386.5:n.671T>G
NM_001282386.1:c.414+44T>G , LRG_610t3:c.414+44T>G NP_001269315.1:n.414+44T>G
NM_001282387.1:c.414+44T>G , LRG_610t2:c.414+44T>G NP_001269316.1:n.414+44T>G
NM_005896.3:c.414+44T>G , LRG_610t1:c.414+44T>G NP_005887.2:n.414+44T>G
NM_005896.4:c.414+44T>G MANE Select NP_005887.2:n.414+44T>G