Canonical Allele Identifier: CA1388867376

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757691T= , CM000665.2:g.101757691T=	GRCh38
NC_000003.11:g.101476535T= , CM000665.1:g.101476535T=	GRCh37
NC_000003.10:g.102959225T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*720T=	ENSP00000419009.1:n.*720T=
ENST00000467655.2:c.*172T=	ENSP00000418547.2:n.*172T=
ENST00000704365.1:c.1085T=	ENSP00000515873.1:p.Phe362=
ENST00000704366.1:c.983T=	ENSP00000515874.1:p.Phe328=
ENST00000704367.1:c.926-120T=	ENSP00000515875.1:n.926-120T=
ENST00000704368.1:n.1578T=
ENST00000704369.1:c.599T=	ENSP00000515876.1:p.Phe200=
ENST00000704370.1:c.1079T=	ENSP00000515877.1:p.Phe360=
ENST00000704372.1:n.1439T=
ENST00000704444.1:c.869T=	ENSP00000515896.1:p.Phe290=
ENST00000704445.1:c.737T=	ENSP00000515897.1:p.Phe246=
ENST00000704446.1:c.1048+495T=	ENSP00000515898.1:n.1048+495T=
ENST00000341893.8:c.1085T= MANE Select	ENSP00000342510.3:p.Phe362=
ENST00000341893.7:c.1085T=	ENSP00000342510.3:p.Phe362=
ENST00000467655.1:c.700T=	ENSP00000418547.1:n.700T=
ENST00000489172.5:n.1067T=
ENST00000494050.5:c.1028-120T=	ENSP00000418185.1:n.1028-120T=
NM_001303401.1:c.1028-120T=	NP_001290330.1:n.1028-120T=
NM_024548.3:c.1085T=	NP_078824.2:p.Phe362=
XM_006713743.2:c.983T=	XP_006713806.1:p.Phe328=
XM_011513125.1:c.869T=	XP_011511427.1:p.Phe290=
XM_011513126.1:c.869T=	XP_011511428.1:p.Phe290=
XM_011513127.1:c.737T=	XP_011511429.1:p.Phe246=
XM_006713743.4:c.983T=	XP_006713806.1:p.Phe328=
XM_017007178.2:c.926-120T=	XP_016862667.1:n.926-120T=
NM_024548.4:c.1085T= MANE Select	NP_078824.2:p.Phe362=
NM_001303401.2:c.1028-120T=	NP_001290330.1:n.1028-120T=