Canonical Allele Identifier: CA1388867551

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758140C= , CM000665.2:g.101758140C=	GRCh38
NC_000003.11:g.101476984C= , CM000665.1:g.101476984C=	GRCh37
NC_000003.10:g.102959674C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1169C=	ENSP00000419009.1:n.*1169C=
ENST00000467655.2:c.*621C=	ENSP00000418547.2:n.*621C=
ENST00000704365.1:c.1534C=	ENSP00000515873.1:p.Gln512=
ENST00000704366.1:c.1432C=	ENSP00000515874.1:p.Gln478=
ENST00000704367.1:c.1255C=	ENSP00000515875.1:p.Gln419=
ENST00000704368.1:n.2027C=
ENST00000704369.1:c.1048C=	ENSP00000515876.1:p.Gln350=
ENST00000704370.1:c.1528C=	ENSP00000515877.1:p.Gln510=
ENST00000704372.1:n.1888C=
ENST00000704444.1:c.1318C=	ENSP00000515896.1:p.Gln440=
ENST00000704445.1:c.1186C=	ENSP00000515897.1:p.Gln396=
ENST00000704446.1:c.1048+944C=	ENSP00000515898.1:n.1048+944C=
ENST00000341893.8:c.1534C= MANE Select	ENSP00000342510.3:p.Gln512=
ENST00000341893.7:c.1534C=	ENSP00000342510.3:p.Gln512=
ENST00000467655.1:c.1149C=	ENSP00000418547.1:n.1149C=
ENST00000489172.5:n.1516C=
ENST00000494050.5:c.1357C=	ENSP00000418185.1:p.Gln453=
NM_001303401.1:c.1357C=	NP_001290330.1:p.Gln453=
NM_024548.3:c.1534C=	NP_078824.2:p.Gln512=
XM_006713743.2:c.1432C=	XP_006713806.1:p.Gln478=
XM_011513125.1:c.1318C=	XP_011511427.1:p.Gln440=
XM_011513126.1:c.1318C=	XP_011511428.1:p.Gln440=
XM_011513127.1:c.1186C=	XP_011511429.1:p.Gln396=
XM_006713743.4:c.1432C=	XP_006713806.1:p.Gln478=
XM_017007178.2:c.1255C=	XP_016862667.1:p.Gln419=
NM_024548.4:c.1534C= MANE Select	NP_078824.2:p.Gln512=
NM_001303401.2:c.1357C=	NP_001290330.1:p.Gln453=