Canonical Allele Identifier: CA9359215

Gene: CEP89

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.32901317A>G , CM000681.2:g.32901317A>G	GRCh38
NC_000019.9:g.33392223A>G , CM000681.1:g.33392223A>G	GRCh37
NC_000019.8:g.38084063A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000305768.10:c.1661T>C MANE Select	ENSP00000306105.4:p.Leu554Ser
ENST00000305768.9:c.1661T>C	ENSP00000306105.4:p.Leu554Ser
ENST00000586984.6:c.*270T>C	ENSP00000465141.1:n.*270T>C
ENST00000591698.5:c.1517T>C	ENSP00000467544.1:n.1517T>C
NM_032816.4:c.1661T>C	NP_116205.3:p.Leu554Ser
XM_005259344.2:c.1589T>C	XP_005259401.1:p.Leu530Ser
XM_011527425.1:c.920T>C	XP_011525727.1:p.Leu307Ser
XR_935866.1:n.1707T>C
XM_005259344.3:c.1589T>C	XP_005259401.1:p.Leu530Ser
XM_017027398.1:c.1661T>C	XP_016882887.1:p.Leu554Ser
XM_024451745.1:c.920T>C	XP_024307513.1:p.Leu307Ser
XR_002958372.1:n.1843T>C
XR_935866.2:n.1707T>C
NM_032816.5:c.1661T>C MANE Select	NP_116205.3:p.Leu554Ser