Canonical Allele Identifier: CA506671948

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32887755G>T , CM000681.2:g.32887755G>T	GRCh38
NC_000019.9:g.33378661G>T , CM000681.1:g.33378661G>T	GRCh37
NC_000019.8:g.38070501G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.1962C>A MANE Select	ENSP00000306105.4:p.Val654=
ENST00000305768.9:c.1962C>A	ENSP00000306105.4:p.Val654=
ENST00000586984.6:c.*571C>A	ENSP00000465141.1:n.*571C>A
ENST00000591698.5:c.1818C>A	ENSP00000467544.1:n.1818C>A
NM_032816.4:c.1962C>A	NP_116205.3:p.Val654=
XM_005259344.2:c.1890C>A	XP_005259401.1:p.Val630=
XM_011527425.1:c.1221C>A	XP_011525727.1:p.Val407=
XR_935866.1:n.2008C>A
XM_005259344.3:c.1890C>A	XP_005259401.1:p.Val630=
XM_024451745.1:c.1221C>A	XP_024307513.1:p.Val407=
XR_002958372.1:n.2144C>A
XR_935866.2:n.2008C>A
NM_032816.5:c.1962C>A MANE Select	NP_116205.3:p.Val654=