Canonical Allele Identifier: CA9359089

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32881907C>T , CM000681.2:g.32881907C>T	GRCh38
NC_000019.9:g.33372813C>T , CM000681.1:g.33372813C>T	GRCh37
NC_000019.8:g.38064653C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.2072G>A MANE Select	ENSP00000306105.4:p.Arg691Gln
ENST00000305768.9:c.2072G>A	ENSP00000306105.4:p.Arg691Gln
ENST00000586984.6:c.*681G>A	ENSP00000465141.1:n.*681G>A
ENST00000591698.5:c.1928G>A	ENSP00000467544.1:n.1928G>A
NM_032816.4:c.2072G>A	NP_116205.3:p.Arg691Gln
XM_005259344.2:c.2000G>A	XP_005259401.1:p.Arg667Gln
XM_011527425.1:c.1331G>A	XP_011525727.1:p.Arg444Gln
XR_935866.1:n.2118G>A
XM_005259344.3:c.2000G>A	XP_005259401.1:p.Arg667Gln
XM_024451745.1:c.1331G>A	XP_024307513.1:p.Arg444Gln
XR_002958372.1:n.2254G>A
XR_935866.2:n.2118G>A
NM_032816.5:c.2072G>A MANE Select	NP_116205.3:p.Arg691Gln