Canonical Allele Identifier: CA350095121

Gene: IDH1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.208239904C>T , CM000664.2:g.208239904C>T	GRCh38
NC_000002.11:g.209104628C>T , CM000664.1:g.209104628C>T	GRCh37
NC_000002.10:g.208812873C>T	NCBI36
NG_023319.2:g.31171G>A , LRG_610:g.31171G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_005896.4:c.950G>A MANE Select	NP_005887.2:p.Arg317His
ENST00000345146.7:c.950G>A MANE Select	ENSP00000260985.2:p.Arg317His
NM_001282386.1:c.950G>A , LRG_610t3:c.950G>A	NP_001269315.1:p.Arg317His
NM_001282387.1:c.950G>A , LRG_610t2:c.950G>A	NP_001269316.1:p.Arg317His
NM_005896.3:c.950G>A , LRG_610t1:c.950G>A	NP_005887.2:p.Arg317His
ENST00000345146.6:c.950G>A	ENSP00000260985.2:p.Arg317His
ENST00000415913.5:c.950G>A	ENSP00000390265.1:p.Arg317His
ENST00000446179.5:c.950G>A	ENSP00000410513.1:p.Arg317His
ENST00000484575.1:n.412G>A