Canonical Allele Identifier: CA353877768

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476967A>C (hg19) ; chr3:g.101758123A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758123A>C , CM000665.2:g.101758123A>C	GRCh38
NC_000003.11:g.101476967A>C , CM000665.1:g.101476967A>C	GRCh37
NC_000003.10:g.102959657A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1152A>C	ENSP00000419009.1:n.*1152A>C
ENST00000467655.2:c.*604A>C	ENSP00000418547.2:n.*604A>C
ENST00000704365.1:c.1517A>C	ENSP00000515873.1:p.Glu506Ala
ENST00000704366.1:c.1415A>C	ENSP00000515874.1:p.Glu472Ala
ENST00000704367.1:c.1238A>C	ENSP00000515875.1:p.Glu413Ala
ENST00000704368.1:n.2010A>C
ENST00000704369.1:c.1031A>C	ENSP00000515876.1:p.Glu344Ala
ENST00000704370.1:c.1511A>C	ENSP00000515877.1:p.Glu504Ala
ENST00000704372.1:n.1871A>C
ENST00000704444.1:c.1301A>C	ENSP00000515896.1:p.Glu434Ala
ENST00000704445.1:c.1169A>C	ENSP00000515897.1:p.Glu390Ala
ENST00000704446.1:c.1048+927A>C	ENSP00000515898.1:n.1048+927A>C
ENST00000341893.8:c.1517A>C MANE Select	ENSP00000342510.3:p.Glu506Ala
ENST00000341893.7:c.1517A>C	ENSP00000342510.3:p.Glu506Ala
ENST00000467655.1:c.1132A>C	ENSP00000418547.1:n.1132A>C
ENST00000489172.5:n.1499A>C
ENST00000494050.5:c.1340A>C	ENSP00000418185.1:p.Glu447Ala
NM_001303401.1:c.1340A>C	NP_001290330.1:p.Glu447Ala
NM_024548.3:c.1517A>C	NP_078824.2:p.Glu506Ala
XM_006713743.2:c.1415A>C	XP_006713806.1:p.Glu472Ala
XM_011513125.1:c.1301A>C	XP_011511427.1:p.Glu434Ala
XM_011513126.1:c.1301A>C	XP_011511428.1:p.Glu434Ala
XM_011513127.1:c.1169A>C	XP_011511429.1:p.Glu390Ala
XM_006713743.4:c.1415A>C	XP_006713806.1:p.Glu472Ala
XM_017007178.2:c.1238A>C	XP_016862667.1:p.Glu413Ala
NM_024548.4:c.1517A>C MANE Select	NP_078824.2:p.Glu506Ala
NM_001303401.2:c.1340A>C	NP_001290330.1:p.Glu447Ala