Canonical Allele Identifier: CA1388867529

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758087T= , CM000665.2:g.101758087T=	GRCh38
NC_000003.11:g.101476931T= , CM000665.1:g.101476931T=	GRCh37
NC_000003.10:g.102959621T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1116T=	ENSP00000419009.1:n.*1116T=
ENST00000467655.2:c.*568T=	ENSP00000418547.2:n.*568T=
ENST00000704365.1:c.1481T=	ENSP00000515873.1:p.Leu494=
ENST00000704366.1:c.1379T=	ENSP00000515874.1:p.Leu460=
ENST00000704367.1:c.1202T=	ENSP00000515875.1:p.Leu401=
ENST00000704368.1:n.1974T=
ENST00000704369.1:c.995T=	ENSP00000515876.1:p.Leu332=
ENST00000704370.1:c.1475T=	ENSP00000515877.1:p.Leu492=
ENST00000704372.1:n.1835T=
ENST00000704444.1:c.1265T=	ENSP00000515896.1:p.Leu422=
ENST00000704445.1:c.1133T=	ENSP00000515897.1:p.Leu378=
ENST00000704446.1:c.1048+891T=	ENSP00000515898.1:n.1048+891T=
ENST00000341893.8:c.1481T= MANE Select	ENSP00000342510.3:p.Leu494=
ENST00000341893.7:c.1481T=	ENSP00000342510.3:p.Leu494=
ENST00000467655.1:c.1096T=	ENSP00000418547.1:n.1096T=
ENST00000489172.5:n.1463T=
ENST00000494050.5:c.1304T=	ENSP00000418185.1:p.Leu435=
NM_001303401.1:c.1304T=	NP_001290330.1:p.Leu435=
NM_024548.3:c.1481T=	NP_078824.2:p.Leu494=
XM_006713743.2:c.1379T=	XP_006713806.1:p.Leu460=
XM_011513125.1:c.1265T=	XP_011511427.1:p.Leu422=
XM_011513126.1:c.1265T=	XP_011511428.1:p.Leu422=
XM_011513127.1:c.1133T=	XP_011511429.1:p.Leu378=
XM_006713743.4:c.1379T=	XP_006713806.1:p.Leu460=
XM_017007178.2:c.1202T=	XP_016862667.1:p.Leu401=
NM_024548.4:c.1481T= MANE Select	NP_078824.2:p.Leu494=
NM_001303401.2:c.1304T=	NP_001290330.1:p.Leu435=