Canonical Allele Identifier: CA1388867424

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757801C= , CM000665.2:g.101757801C=	GRCh38
NC_000003.11:g.101476645C= , CM000665.1:g.101476645C=	GRCh37
NC_000003.10:g.102959335C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*830C=	ENSP00000419009.1:n.*830C=
ENST00000467655.2:c.*282C=	ENSP00000418547.2:n.*282C=
ENST00000704365.1:c.1195C=	ENSP00000515873.1:p.Leu399=
ENST00000704366.1:c.1093C=	ENSP00000515874.1:p.Leu365=
ENST00000704367.1:c.926-10C=	ENSP00000515875.1:n.926-10C=
ENST00000704368.1:n.1688C=
ENST00000704369.1:c.709C=	ENSP00000515876.1:p.Leu237=
ENST00000704370.1:c.1189C=	ENSP00000515877.1:p.Leu397=
ENST00000704372.1:n.1549C=
ENST00000704444.1:c.979C=	ENSP00000515896.1:p.Leu327=
ENST00000704445.1:c.847C=	ENSP00000515897.1:p.Leu283=
ENST00000704446.1:c.1048+605C=	ENSP00000515898.1:n.1048+605C=
ENST00000341893.8:c.1195C= MANE Select	ENSP00000342510.3:p.Leu399=
ENST00000341893.7:c.1195C=	ENSP00000342510.3:p.Leu399=
ENST00000467655.1:c.810C=	ENSP00000418547.1:n.810C=
ENST00000489172.5:n.1177C=
ENST00000494050.5:c.1028-10C=	ENSP00000418185.1:n.1028-10C=
NM_001303401.1:c.1028-10C=	NP_001290330.1:n.1028-10C=
NM_024548.3:c.1195C=	NP_078824.2:p.Leu399=
XM_006713743.2:c.1093C=	XP_006713806.1:p.Leu365=
XM_011513125.1:c.979C=	XP_011511427.1:p.Leu327=
XM_011513126.1:c.979C=	XP_011511428.1:p.Leu327=
XM_011513127.1:c.847C=	XP_011511429.1:p.Leu283=
XM_006713743.4:c.1093C=	XP_006713806.1:p.Leu365=
XM_017007178.2:c.926-10C=	XP_016862667.1:n.926-10C=
NM_024548.4:c.1195C= MANE Select	NP_078824.2:p.Leu399=
NM_001303401.2:c.1028-10C=	NP_001290330.1:n.1028-10C=