Canonical Allele Identifier: CA2522062

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2895714
• ClinVar RCV Id: RCV003728537
• dbSNP Id: rs755022116
• ExAC: 3:101476516 A / T
• gnomAD v2: 3-101476516-A-T
• MyVariant Identifiers: chr3:g.101476516A>T (hg19) ; chr3:g.101757672A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757672A>T , CM000665.2:g.101757672A>T	GRCh38
NC_000003.11:g.101476516A>T , CM000665.1:g.101476516A>T	GRCh37
NC_000003.10:g.102959206A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*701A>T	ENSP00000419009.1:n.*701A>T
ENST00000467655.2:c.*153A>T	ENSP00000418547.2:n.*153A>T
ENST00000704365.1:c.1066A>T	ENSP00000515873.1:p.Ser356Cys
ENST00000704366.1:c.964A>T	ENSP00000515874.1:p.Ser322Cys
ENST00000704367.1:c.926-139A>T	ENSP00000515875.1:n.926-139A>T
ENST00000704368.1:n.1559A>T
ENST00000704369.1:c.580A>T	ENSP00000515876.1:p.Ser194Cys
ENST00000704370.1:c.1060A>T	ENSP00000515877.1:p.Ser354Cys
ENST00000704372.1:n.1420A>T
ENST00000704444.1:c.850A>T	ENSP00000515896.1:p.Ser284Cys
ENST00000704445.1:c.718A>T	ENSP00000515897.1:p.Ser240Cys
ENST00000704446.1:c.1048+476A>T	ENSP00000515898.1:n.1048+476A>T
ENST00000341893.8:c.1066A>T MANE Select	ENSP00000342510.3:p.Ser356Cys
ENST00000341893.7:c.1066A>T	ENSP00000342510.3:p.Ser356Cys
ENST00000467655.1:c.681A>T	ENSP00000418547.1:n.681A>T
ENST00000489172.5:n.1048A>T
ENST00000494050.5:c.1028-139A>T	ENSP00000418185.1:n.1028-139A>T
NM_001303401.1:c.1028-139A>T	NP_001290330.1:n.1028-139A>T
NM_024548.3:c.1066A>T	NP_078824.2:p.Ser356Cys
XM_006713743.2:c.964A>T	XP_006713806.1:p.Ser322Cys
XM_011513125.1:c.850A>T	XP_011511427.1:p.Ser284Cys
XM_011513126.1:c.850A>T	XP_011511428.1:p.Ser284Cys
XM_011513127.1:c.718A>T	XP_011511429.1:p.Ser240Cys
XM_006713743.4:c.964A>T	XP_006713806.1:p.Ser322Cys
XM_017007178.2:c.926-139A>T	XP_016862667.1:n.926-139A>T
NM_024548.4:c.1066A>T MANE Select	NP_078824.2:p.Ser356Cys
NM_001303401.2:c.1028-139A>T	NP_001290330.1:n.1028-139A>T