Canonical Allele Identifier: CA1388867540

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758108T= , CM000665.2:g.101758108T=	GRCh38
NC_000003.11:g.101476952T= , CM000665.1:g.101476952T=	GRCh37
NC_000003.10:g.102959642T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1137T=	ENSP00000419009.1:n.*1137T=
ENST00000467655.2:c.*589T=	ENSP00000418547.2:n.*589T=
ENST00000704365.1:c.1502T=	ENSP00000515873.1:p.Leu501=
ENST00000704366.1:c.1400T=	ENSP00000515874.1:p.Leu467=
ENST00000704367.1:c.1223T=	ENSP00000515875.1:p.Leu408=
ENST00000704368.1:n.1995T=
ENST00000704369.1:c.1016T=	ENSP00000515876.1:p.Leu339=
ENST00000704370.1:c.1496T=	ENSP00000515877.1:p.Leu499=
ENST00000704372.1:n.1856T=
ENST00000704444.1:c.1286T=	ENSP00000515896.1:p.Leu429=
ENST00000704445.1:c.1154T=	ENSP00000515897.1:p.Leu385=
ENST00000704446.1:c.1048+912T=	ENSP00000515898.1:n.1048+912T=
ENST00000341893.8:c.1502T= MANE Select	ENSP00000342510.3:p.Leu501=
ENST00000341893.7:c.1502T=	ENSP00000342510.3:p.Leu501=
ENST00000467655.1:c.1117T=	ENSP00000418547.1:n.1117T=
ENST00000489172.5:n.1484T=
ENST00000494050.5:c.1325T=	ENSP00000418185.1:p.Leu442=
NM_001303401.1:c.1325T=	NP_001290330.1:p.Leu442=
NM_024548.3:c.1502T=	NP_078824.2:p.Leu501=
XM_006713743.2:c.1400T=	XP_006713806.1:p.Leu467=
XM_011513125.1:c.1286T=	XP_011511427.1:p.Leu429=
XM_011513126.1:c.1286T=	XP_011511428.1:p.Leu429=
XM_011513127.1:c.1154T=	XP_011511429.1:p.Leu385=
XM_006713743.4:c.1400T=	XP_006713806.1:p.Leu467=
XM_017007178.2:c.1223T=	XP_016862667.1:p.Leu408=
NM_024548.4:c.1502T= MANE Select	NP_078824.2:p.Leu501=
NM_001303401.2:c.1325T=	NP_001290330.1:p.Leu442=