Canonical Allele Identifier: CA1388867425

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757802T= , CM000665.2:g.101757802T=	GRCh38
NC_000003.11:g.101476646T= , CM000665.1:g.101476646T=	GRCh37
NC_000003.10:g.102959336T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*831T=	ENSP00000419009.1:n.*831T=
ENST00000467655.2:c.*283T=	ENSP00000418547.2:n.*283T=
ENST00000704365.1:c.1196T=	ENSP00000515873.1:p.Leu399=
ENST00000704366.1:c.1094T=	ENSP00000515874.1:p.Leu365=
ENST00000704367.1:c.926-9T=	ENSP00000515875.1:n.926-9T=
ENST00000704368.1:n.1689T=
ENST00000704369.1:c.710T=	ENSP00000515876.1:p.Leu237=
ENST00000704370.1:c.1190T=	ENSP00000515877.1:p.Leu397=
ENST00000704372.1:n.1550T=
ENST00000704444.1:c.980T=	ENSP00000515896.1:p.Leu327=
ENST00000704445.1:c.848T=	ENSP00000515897.1:p.Leu283=
ENST00000704446.1:c.1048+606T=	ENSP00000515898.1:n.1048+606T=
ENST00000341893.8:c.1196T= MANE Select	ENSP00000342510.3:p.Leu399=
ENST00000341893.7:c.1196T=	ENSP00000342510.3:p.Leu399=
ENST00000467655.1:c.811T=	ENSP00000418547.1:n.811T=
ENST00000489172.5:n.1178T=
ENST00000494050.5:c.1028-9T=	ENSP00000418185.1:n.1028-9T=
NM_001303401.1:c.1028-9T=	NP_001290330.1:n.1028-9T=
NM_024548.3:c.1196T=	NP_078824.2:p.Leu399=
XM_006713743.2:c.1094T=	XP_006713806.1:p.Leu365=
XM_011513125.1:c.980T=	XP_011511427.1:p.Leu327=
XM_011513126.1:c.980T=	XP_011511428.1:p.Leu327=
XM_011513127.1:c.848T=	XP_011511429.1:p.Leu283=
XM_006713743.4:c.1094T=	XP_006713806.1:p.Leu365=
XM_017007178.2:c.926-9T=	XP_016862667.1:n.926-9T=
NM_024548.4:c.1196T= MANE Select	NP_078824.2:p.Leu399=
NM_001303401.2:c.1028-9T=	NP_001290330.1:n.1028-9T=