Canonical Allele Identifier: CA1323988048
Gene: IDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.208248138A= , CM000664.2:g.208248138A= GRCh38
NC_000002.11:g.209112862A= , CM000664.1:g.209112862A= GRCh37
NC_000002.10:g.208821107A= NCBI36
NG_023319.2:g.22937T= , LRG_610:g.22937T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000345146.7:c.414+231T= MANE Select ENSP00000260985.2:n.414+231T=
ENST00000345146.6:c.414+231T= ENSP00000260985.2:n.414+231T=
ENST00000415282.5:c.414+231T= ENSP00000391075.1:n.414+231T=
ENST00000415913.5:c.414+231T= ENSP00000390265.1:n.414+231T=
ENST00000446179.5:c.414+231T= ENSP00000410513.1:n.414+231T=
ENST00000462386.5:n.858T=
NM_001282386.1:c.414+231T= , LRG_610t3:c.414+231T= NP_001269315.1:n.414+231T=
NM_001282387.1:c.414+231T= , LRG_610t2:c.414+231T= NP_001269316.1:n.414+231T=
NM_005896.3:c.414+231T= , LRG_610t1:c.414+231T= NP_005887.2:n.414+231T=
NM_005896.4:c.414+231T= MANE Select NP_005887.2:n.414+231T=