Canonical Allele Identifier: CA1388867504

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758029G= , CM000665.2:g.101758029G=	GRCh38
NC_000003.11:g.101476873G= , CM000665.1:g.101476873G=	GRCh37
NC_000003.10:g.102959563G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1058G=	ENSP00000419009.1:n.*1058G=
ENST00000467655.2:c.*510G=	ENSP00000418547.2:n.*510G=
ENST00000704365.1:c.1423G=	ENSP00000515873.1:p.Val475=
ENST00000704366.1:c.1321G=	ENSP00000515874.1:p.Val441=
ENST00000704367.1:c.1144G=	ENSP00000515875.1:p.Val382=
ENST00000704368.1:n.1916G=
ENST00000704369.1:c.937G=	ENSP00000515876.1:p.Val313=
ENST00000704370.1:c.1417G=	ENSP00000515877.1:p.Val473=
ENST00000704372.1:n.1777G=
ENST00000704444.1:c.1207G=	ENSP00000515896.1:p.Val403=
ENST00000704445.1:c.1075G=	ENSP00000515897.1:p.Val359=
ENST00000704446.1:c.1048+833G=	ENSP00000515898.1:n.1048+833G=
ENST00000341893.8:c.1423G= MANE Select	ENSP00000342510.3:p.Val475=
ENST00000341893.7:c.1423G=	ENSP00000342510.3:p.Val475=
ENST00000467655.1:c.1038G=	ENSP00000418547.1:n.1038G=
ENST00000489172.5:n.1405G=
ENST00000494050.5:c.1246G=	ENSP00000418185.1:p.Val416=
NM_001303401.1:c.1246G=	NP_001290330.1:p.Val416=
NM_024548.3:c.1423G=	NP_078824.2:p.Val475=
XM_006713743.2:c.1321G=	XP_006713806.1:p.Val441=
XM_011513125.1:c.1207G=	XP_011511427.1:p.Val403=
XM_011513126.1:c.1207G=	XP_011511428.1:p.Val403=
XM_011513127.1:c.1075G=	XP_011511429.1:p.Val359=
XM_006713743.4:c.1321G=	XP_006713806.1:p.Val441=
XM_017007178.2:c.1144G=	XP_016862667.1:p.Val382=
NM_024548.4:c.1423G= MANE Select	NP_078824.2:p.Val475=
NM_001303401.2:c.1246G=	NP_001290330.1:p.Val416=