Canonical Allele Identifier: CA1388867485

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757957G= , CM000665.2:g.101757957G=	GRCh38
NC_000003.11:g.101476801G= , CM000665.1:g.101476801G=	GRCh37
NC_000003.10:g.102959491G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*986G=	ENSP00000419009.1:n.*986G=
ENST00000467655.2:c.*438G=	ENSP00000418547.2:n.*438G=
ENST00000704365.1:c.1351G=	ENSP00000515873.1:p.Glu451=
ENST00000704366.1:c.1249G=	ENSP00000515874.1:p.Glu417=
ENST00000704367.1:c.1072G=	ENSP00000515875.1:p.Glu358=
ENST00000704368.1:n.1844G=
ENST00000704369.1:c.865G=	ENSP00000515876.1:p.Glu289=
ENST00000704370.1:c.1345G=	ENSP00000515877.1:p.Glu449=
ENST00000704372.1:n.1705G=
ENST00000704444.1:c.1135G=	ENSP00000515896.1:p.Glu379=
ENST00000704445.1:c.1003G=	ENSP00000515897.1:p.Glu335=
ENST00000704446.1:c.1048+761G=	ENSP00000515898.1:n.1048+761G=
ENST00000341893.8:c.1351G= MANE Select	ENSP00000342510.3:p.Glu451=
ENST00000341893.7:c.1351G=	ENSP00000342510.3:p.Glu451=
ENST00000467655.1:c.966G=	ENSP00000418547.1:n.966G=
ENST00000489172.5:n.1333G=
ENST00000494050.5:c.1174G=	ENSP00000418185.1:p.Glu392=
NM_001303401.1:c.1174G=	NP_001290330.1:p.Glu392=
NM_024548.3:c.1351G=	NP_078824.2:p.Glu451=
XM_006713743.2:c.1249G=	XP_006713806.1:p.Glu417=
XM_011513125.1:c.1135G=	XP_011511427.1:p.Glu379=
XM_011513126.1:c.1135G=	XP_011511428.1:p.Glu379=
XM_011513127.1:c.1003G=	XP_011511429.1:p.Glu335=
XM_006713743.4:c.1249G=	XP_006713806.1:p.Glu417=
XM_017007178.2:c.1072G=	XP_016862667.1:p.Glu358=
NM_024548.4:c.1351G= MANE Select	NP_078824.2:p.Glu451=
NM_001303401.2:c.1174G=	NP_001290330.1:p.Glu392=