Canonical Allele Identifier: CA353877574

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758037-G-C
• MyVariant Identifiers: chr3:g.101476881G>C (hg19) ; chr3:g.101758037G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758037G>C , CM000665.2:g.101758037G>C	GRCh38
NC_000003.11:g.101476881G>C , CM000665.1:g.101476881G>C	GRCh37
NC_000003.10:g.102959571G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1066G>C	ENSP00000419009.1:n.*1066G>C
ENST00000467655.2:c.*518G>C	ENSP00000418547.2:n.*518G>C
ENST00000704365.1:c.1431G>C	ENSP00000515873.1:p.Glu477Asp
ENST00000704366.1:c.1329G>C	ENSP00000515874.1:p.Glu443Asp
ENST00000704367.1:c.1152G>C	ENSP00000515875.1:p.Glu384Asp
ENST00000704368.1:n.1924G>C
ENST00000704369.1:c.945G>C	ENSP00000515876.1:p.Glu315Asp
ENST00000704370.1:c.1425G>C	ENSP00000515877.1:p.Glu475Asp
ENST00000704372.1:n.1785G>C
ENST00000704444.1:c.1215G>C	ENSP00000515896.1:p.Glu405Asp
ENST00000704445.1:c.1083G>C	ENSP00000515897.1:p.Glu361Asp
ENST00000704446.1:c.1048+841G>C	ENSP00000515898.1:n.1048+841G>C
ENST00000341893.8:c.1431G>C MANE Select	ENSP00000342510.3:p.Glu477Asp
ENST00000341893.7:c.1431G>C	ENSP00000342510.3:p.Glu477Asp
ENST00000467655.1:c.1046G>C	ENSP00000418547.1:n.1046G>C
ENST00000489172.5:n.1413G>C
ENST00000494050.5:c.1254G>C	ENSP00000418185.1:p.Glu418Asp
NM_001303401.1:c.1254G>C	NP_001290330.1:p.Glu418Asp
NM_024548.3:c.1431G>C	NP_078824.2:p.Glu477Asp
XM_006713743.2:c.1329G>C	XP_006713806.1:p.Glu443Asp
XM_011513125.1:c.1215G>C	XP_011511427.1:p.Glu405Asp
XM_011513126.1:c.1215G>C	XP_011511428.1:p.Glu405Asp
XM_011513127.1:c.1083G>C	XP_011511429.1:p.Glu361Asp
XM_006713743.4:c.1329G>C	XP_006713806.1:p.Glu443Asp
XM_017007178.2:c.1152G>C	XP_016862667.1:p.Glu384Asp
NM_024548.4:c.1431G>C MANE Select	NP_078824.2:p.Glu477Asp
NM_001303401.2:c.1254G>C	NP_001290330.1:p.Glu418Asp