Canonical Allele Identifier: CA353877607

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758053-C-A
• MyVariant Identifiers: chr3:g.101476897C>A (hg19) ; chr3:g.101758053C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758053C>A , CM000665.2:g.101758053C>A	GRCh38
NC_000003.11:g.101476897C>A , CM000665.1:g.101476897C>A	GRCh37
NC_000003.10:g.102959587C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1082C>A	ENSP00000419009.1:n.*1082C>A
ENST00000467655.2:c.*534C>A	ENSP00000418547.2:n.*534C>A
ENST00000704365.1:c.1447C>A	ENSP00000515873.1:p.Pro483Thr
ENST00000704366.1:c.1345C>A	ENSP00000515874.1:p.Pro449Thr
ENST00000704367.1:c.1168C>A	ENSP00000515875.1:p.Pro390Thr
ENST00000704368.1:n.1940C>A
ENST00000704369.1:c.961C>A	ENSP00000515876.1:p.Pro321Thr
ENST00000704370.1:c.1441C>A	ENSP00000515877.1:p.Pro481Thr
ENST00000704372.1:n.1801C>A
ENST00000704444.1:c.1231C>A	ENSP00000515896.1:p.Pro411Thr
ENST00000704445.1:c.1099C>A	ENSP00000515897.1:p.Pro367Thr
ENST00000704446.1:c.1048+857C>A	ENSP00000515898.1:n.1048+857C>A
ENST00000341893.8:c.1447C>A MANE Select	ENSP00000342510.3:p.Pro483Thr
ENST00000341893.7:c.1447C>A	ENSP00000342510.3:p.Pro483Thr
ENST00000467655.1:c.1062C>A	ENSP00000418547.1:n.1062C>A
ENST00000489172.5:n.1429C>A
ENST00000494050.5:c.1270C>A	ENSP00000418185.1:p.Pro424Thr
NM_001303401.1:c.1270C>A	NP_001290330.1:p.Pro424Thr
NM_024548.3:c.1447C>A	NP_078824.2:p.Pro483Thr
XM_006713743.2:c.1345C>A	XP_006713806.1:p.Pro449Thr
XM_011513125.1:c.1231C>A	XP_011511427.1:p.Pro411Thr
XM_011513126.1:c.1231C>A	XP_011511428.1:p.Pro411Thr
XM_011513127.1:c.1099C>A	XP_011511429.1:p.Pro367Thr
XM_006713743.4:c.1345C>A	XP_006713806.1:p.Pro449Thr
XM_017007178.2:c.1168C>A	XP_016862667.1:p.Pro390Thr
NM_024548.4:c.1447C>A MANE Select	NP_078824.2:p.Pro483Thr
NM_001303401.2:c.1270C>A	NP_001290330.1:p.Pro424Thr