Canonical Allele Identifier: CA9359172

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32899958C>A , CM000681.2:g.32899958C>A	GRCh38
NC_000019.9:g.33390864C>A , CM000681.1:g.33390864C>A	GRCh37
NC_000019.8:g.38082704C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.1774G>T MANE Select	ENSP00000306105.4:p.Glu592Ter
ENST00000305768.9:c.1774G>T	ENSP00000306105.4:p.Glu592Ter
ENST00000586984.6:c.*383G>T	ENSP00000465141.1:n.*383G>T
ENST00000591698.5:c.1630G>T	ENSP00000467544.1:n.1630G>T
NM_032816.4:c.1774G>T	NP_116205.3:p.Glu592Ter
XM_005259344.2:c.1702G>T	XP_005259401.1:p.Glu568Ter
XM_011527425.1:c.1033G>T	XP_011525727.1:p.Glu345Ter
XR_935866.1:n.1820G>T
XM_005259344.3:c.1702G>T	XP_005259401.1:p.Glu568Ter
XM_017027398.1:c.1774G>T	XP_016882887.1:p.Glu592Ter
XM_024451745.1:c.1033G>T	XP_024307513.1:p.Glu345Ter
XR_002958372.1:n.1956G>T
XR_935866.2:n.1820G>T
NM_032816.5:c.1774G>T MANE Select	NP_116205.3:p.Glu592Ter