Canonical Allele Identifier: CA1388867528

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758085C= , CM000665.2:g.101758085C=	GRCh38
NC_000003.11:g.101476929C= , CM000665.1:g.101476929C=	GRCh37
NC_000003.10:g.102959619C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1114C=	ENSP00000419009.1:n.*1114C=
ENST00000467655.2:c.*566C=	ENSP00000418547.2:n.*566C=
ENST00000704365.1:c.1479C=	ENSP00000515873.1:p.Ile493=
ENST00000704366.1:c.1377C=	ENSP00000515874.1:p.Ile459=
ENST00000704367.1:c.1200C=	ENSP00000515875.1:p.Ile400=
ENST00000704368.1:n.1972C=
ENST00000704369.1:c.993C=	ENSP00000515876.1:p.Ile331=
ENST00000704370.1:c.1473C=	ENSP00000515877.1:p.Ile491=
ENST00000704372.1:n.1833C=
ENST00000704444.1:c.1263C=	ENSP00000515896.1:p.Ile421=
ENST00000704445.1:c.1131C=	ENSP00000515897.1:p.Ile377=
ENST00000704446.1:c.1048+889C=	ENSP00000515898.1:n.1048+889C=
ENST00000341893.8:c.1479C= MANE Select	ENSP00000342510.3:p.Ile493=
ENST00000341893.7:c.1479C=	ENSP00000342510.3:p.Ile493=
ENST00000467655.1:c.1094C=	ENSP00000418547.1:n.1094C=
ENST00000489172.5:n.1461C=
ENST00000494050.5:c.1302C=	ENSP00000418185.1:p.Ile434=
NM_001303401.1:c.1302C=	NP_001290330.1:p.Ile434=
NM_024548.3:c.1479C=	NP_078824.2:p.Ile493=
XM_006713743.2:c.1377C=	XP_006713806.1:p.Ile459=
XM_011513125.1:c.1263C=	XP_011511427.1:p.Ile421=
XM_011513126.1:c.1263C=	XP_011511428.1:p.Ile421=
XM_011513127.1:c.1131C=	XP_011511429.1:p.Ile377=
XM_006713743.4:c.1377C=	XP_006713806.1:p.Ile459=
XM_017007178.2:c.1200C=	XP_016862667.1:p.Ile400=
NM_024548.4:c.1479C= MANE Select	NP_078824.2:p.Ile493=
NM_001303401.2:c.1302C=	NP_001290330.1:p.Ile434=