Canonical Allele Identifier: CA1388867542

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758114T= , CM000665.2:g.101758114T=	GRCh38
NC_000003.11:g.101476958T= , CM000665.1:g.101476958T=	GRCh37
NC_000003.10:g.102959648T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1143T=	ENSP00000419009.1:n.*1143T=
ENST00000467655.2:c.*595T=	ENSP00000418547.2:n.*595T=
ENST00000704365.1:c.1508T=	ENSP00000515873.1:p.Phe503=
ENST00000704366.1:c.1406T=	ENSP00000515874.1:p.Phe469=
ENST00000704367.1:c.1229T=	ENSP00000515875.1:p.Phe410=
ENST00000704368.1:n.2001T=
ENST00000704369.1:c.1022T=	ENSP00000515876.1:p.Phe341=
ENST00000704370.1:c.1502T=	ENSP00000515877.1:p.Phe501=
ENST00000704372.1:n.1862T=
ENST00000704444.1:c.1292T=	ENSP00000515896.1:p.Phe431=
ENST00000704445.1:c.1160T=	ENSP00000515897.1:p.Phe387=
ENST00000704446.1:c.1048+918T=	ENSP00000515898.1:n.1048+918T=
ENST00000341893.8:c.1508T= MANE Select	ENSP00000342510.3:p.Phe503=
ENST00000341893.7:c.1508T=	ENSP00000342510.3:p.Phe503=
ENST00000467655.1:c.1123T=	ENSP00000418547.1:n.1123T=
ENST00000489172.5:n.1490T=
ENST00000494050.5:c.1331T=	ENSP00000418185.1:p.Phe444=
NM_001303401.1:c.1331T=	NP_001290330.1:p.Phe444=
NM_024548.3:c.1508T=	NP_078824.2:p.Phe503=
XM_006713743.2:c.1406T=	XP_006713806.1:p.Phe469=
XM_011513125.1:c.1292T=	XP_011511427.1:p.Phe431=
XM_011513126.1:c.1292T=	XP_011511428.1:p.Phe431=
XM_011513127.1:c.1160T=	XP_011511429.1:p.Phe387=
XM_006713743.4:c.1406T=	XP_006713806.1:p.Phe469=
XM_017007178.2:c.1229T=	XP_016862667.1:p.Phe410=
NM_024548.4:c.1508T= MANE Select	NP_078824.2:p.Phe503=
NM_001303401.2:c.1331T=	NP_001290330.1:p.Phe444=