Canonical Allele Identifier: CA1388867561

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758167A= , CM000665.2:g.101758167A=	GRCh38
NC_000003.11:g.101477011A= , CM000665.1:g.101477011A=	GRCh37
NC_000003.10:g.102959701A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1196A=	ENSP00000419009.1:n.*1196A=
ENST00000467655.2:c.*648A=	ENSP00000418547.2:n.*648A=
ENST00000704365.1:c.1561A=	ENSP00000515873.1:p.Thr521=
ENST00000704366.1:c.1459A=	ENSP00000515874.1:p.Thr487=
ENST00000704367.1:c.1282A=	ENSP00000515875.1:p.Thr428=
ENST00000704368.1:n.2054A=
ENST00000704369.1:c.1075A=	ENSP00000515876.1:p.Thr359=
ENST00000704370.1:c.1555A=	ENSP00000515877.1:p.Thr519=
ENST00000704372.1:n.1915A=
ENST00000704444.1:c.1345A=	ENSP00000515896.1:p.Thr449=
ENST00000704445.1:c.1213A=	ENSP00000515897.1:p.Thr405=
ENST00000704446.1:c.1048+971A=	ENSP00000515898.1:n.1048+971A=
ENST00000341893.8:c.1561A= MANE Select	ENSP00000342510.3:p.Thr521=
ENST00000341893.7:c.1561A=	ENSP00000342510.3:p.Thr521=
ENST00000467655.1:c.1176A=	ENSP00000418547.1:n.1176A=
ENST00000489172.5:n.1543A=
ENST00000494050.5:c.1384A=	ENSP00000418185.1:p.Thr462=
NM_001303401.1:c.1384A=	NP_001290330.1:p.Thr462=
NM_024548.3:c.1561A=	NP_078824.2:p.Thr521=
XM_006713743.2:c.1459A=	XP_006713806.1:p.Thr487=
XM_011513125.1:c.1345A=	XP_011511427.1:p.Thr449=
XM_011513126.1:c.1345A=	XP_011511428.1:p.Thr449=
XM_011513127.1:c.1213A=	XP_011511429.1:p.Thr405=
XM_006713743.4:c.1459A=	XP_006713806.1:p.Thr487=
XM_017007178.2:c.1282A=	XP_016862667.1:p.Thr428=
NM_024548.4:c.1561A= MANE Select	NP_078824.2:p.Thr521=
NM_001303401.2:c.1384A=	NP_001290330.1:p.Thr462=