Canonical Allele Identifier: CA1388867442

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757842G= , CM000665.2:g.101757842G=	GRCh38
NC_000003.11:g.101476686G= , CM000665.1:g.101476686G=	GRCh37
NC_000003.10:g.102959376G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*871G=	ENSP00000419009.1:n.*871G=
ENST00000467655.2:c.*323G=	ENSP00000418547.2:n.*323G=
ENST00000704365.1:c.1236G=	ENSP00000515873.1:p.Leu412=
ENST00000704366.1:c.1134G=	ENSP00000515874.1:p.Leu378=
ENST00000704367.1:c.957G=	ENSP00000515875.1:p.Leu319=
ENST00000704368.1:n.1729G=
ENST00000704369.1:c.750G=	ENSP00000515876.1:p.Leu250=
ENST00000704370.1:c.1230G=	ENSP00000515877.1:p.Leu410=
ENST00000704372.1:n.1590G=
ENST00000704444.1:c.1020G=	ENSP00000515896.1:p.Leu340=
ENST00000704445.1:c.888G=	ENSP00000515897.1:p.Leu296=
ENST00000704446.1:c.1048+646G=	ENSP00000515898.1:n.1048+646G=
ENST00000341893.8:c.1236G= MANE Select	ENSP00000342510.3:p.Leu412=
ENST00000341893.7:c.1236G=	ENSP00000342510.3:p.Leu412=
ENST00000467655.1:c.851G=	ENSP00000418547.1:n.851G=
ENST00000489172.5:n.1218G=
ENST00000494050.5:c.1059G=	ENSP00000418185.1:p.Leu353=
NM_001303401.1:c.1059G=	NP_001290330.1:p.Leu353=
NM_024548.3:c.1236G=	NP_078824.2:p.Leu412=
XM_006713743.2:c.1134G=	XP_006713806.1:p.Leu378=
XM_011513125.1:c.1020G=	XP_011511427.1:p.Leu340=
XM_011513126.1:c.1020G=	XP_011511428.1:p.Leu340=
XM_011513127.1:c.888G=	XP_011511429.1:p.Leu296=
XM_006713743.4:c.1134G=	XP_006713806.1:p.Leu378=
XM_017007178.2:c.957G=	XP_016862667.1:p.Leu319=
NM_024548.4:c.1236G= MANE Select	NP_078824.2:p.Leu412=
NM_001303401.2:c.1059G=	NP_001290330.1:p.Leu353=