Canonical Allele Identifier: CA353877553

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476871A>T (hg19) ; chr3:g.101758027A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758027A>T , CM000665.2:g.101758027A>T	GRCh38
NC_000003.11:g.101476871A>T , CM000665.1:g.101476871A>T	GRCh37
NC_000003.10:g.102959561A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1056A>T	ENSP00000419009.1:n.*1056A>T
ENST00000467655.2:c.*508A>T	ENSP00000418547.2:n.*508A>T
ENST00000704365.1:c.1421A>T	ENSP00000515873.1:p.Glu474Val
ENST00000704366.1:c.1319A>T	ENSP00000515874.1:p.Glu440Val
ENST00000704367.1:c.1142A>T	ENSP00000515875.1:p.Glu381Val
ENST00000704368.1:n.1914A>T
ENST00000704369.1:c.935A>T	ENSP00000515876.1:p.Glu312Val
ENST00000704370.1:c.1415A>T	ENSP00000515877.1:p.Glu472Val
ENST00000704372.1:n.1775A>T
ENST00000704444.1:c.1205A>T	ENSP00000515896.1:p.Glu402Val
ENST00000704445.1:c.1073A>T	ENSP00000515897.1:p.Glu358Val
ENST00000704446.1:c.1048+831A>T	ENSP00000515898.1:n.1048+831A>T
ENST00000341893.8:c.1421A>T MANE Select	ENSP00000342510.3:p.Glu474Val
ENST00000341893.7:c.1421A>T	ENSP00000342510.3:p.Glu474Val
ENST00000467655.1:c.1036A>T	ENSP00000418547.1:n.1036A>T
ENST00000489172.5:n.1403A>T
ENST00000494050.5:c.1244A>T	ENSP00000418185.1:p.Glu415Val
NM_001303401.1:c.1244A>T	NP_001290330.1:p.Glu415Val
NM_024548.3:c.1421A>T	NP_078824.2:p.Glu474Val
XM_006713743.2:c.1319A>T	XP_006713806.1:p.Glu440Val
XM_011513125.1:c.1205A>T	XP_011511427.1:p.Glu402Val
XM_011513126.1:c.1205A>T	XP_011511428.1:p.Glu402Val
XM_011513127.1:c.1073A>T	XP_011511429.1:p.Glu358Val
XM_006713743.4:c.1319A>T	XP_006713806.1:p.Glu440Val
XM_017007178.2:c.1142A>T	XP_016862667.1:p.Glu381Val
NM_024548.4:c.1421A>T MANE Select	NP_078824.2:p.Glu474Val
NM_001303401.2:c.1244A>T	NP_001290330.1:p.Glu415Val