Canonical Allele Identifier: CA1388867536

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758097T= , CM000665.2:g.101758097T=	GRCh38
NC_000003.11:g.101476941T= , CM000665.1:g.101476941T=	GRCh37
NC_000003.10:g.102959631T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1126T=	ENSP00000419009.1:n.*1126T=
ENST00000467655.2:c.*578T=	ENSP00000418547.2:n.*578T=
ENST00000704365.1:c.1491T=	ENSP00000515873.1:p.Asp497=
ENST00000704366.1:c.1389T=	ENSP00000515874.1:p.Asp463=
ENST00000704367.1:c.1212T=	ENSP00000515875.1:p.Asp404=
ENST00000704368.1:n.1984T=
ENST00000704369.1:c.1005T=	ENSP00000515876.1:p.Asp335=
ENST00000704370.1:c.1485T=	ENSP00000515877.1:p.Asp495=
ENST00000704372.1:n.1845T=
ENST00000704444.1:c.1275T=	ENSP00000515896.1:p.Asp425=
ENST00000704445.1:c.1143T=	ENSP00000515897.1:p.Asp381=
ENST00000704446.1:c.1048+901T=	ENSP00000515898.1:n.1048+901T=
ENST00000341893.8:c.1491T= MANE Select	ENSP00000342510.3:p.Asp497=
ENST00000341893.7:c.1491T=	ENSP00000342510.3:p.Asp497=
ENST00000467655.1:c.1106T=	ENSP00000418547.1:n.1106T=
ENST00000489172.5:n.1473T=
ENST00000494050.5:c.1314T=	ENSP00000418185.1:p.Asp438=
NM_001303401.1:c.1314T=	NP_001290330.1:p.Asp438=
NM_024548.3:c.1491T=	NP_078824.2:p.Asp497=
XM_006713743.2:c.1389T=	XP_006713806.1:p.Asp463=
XM_011513125.1:c.1275T=	XP_011511427.1:p.Asp425=
XM_011513126.1:c.1275T=	XP_011511428.1:p.Asp425=
XM_011513127.1:c.1143T=	XP_011511429.1:p.Asp381=
XM_006713743.4:c.1389T=	XP_006713806.1:p.Asp463=
XM_017007178.2:c.1212T=	XP_016862667.1:p.Asp404=
NM_024548.4:c.1491T= MANE Select	NP_078824.2:p.Asp497=
NM_001303401.2:c.1314T=	NP_001290330.1:p.Asp438=