Canonical Allele Identifier: CA2522132

Gene: CEP97

Linked Data

• ClinVar Variation Id: 1976818
• ClinVar RCV Id: RCV002761069
• dbSNP Id: rs368224122
• ExAC: 3:101476913 C / A
• gnomAD v2: 3-101476913-C-A
• gnomAD v3: 3-101758069-C-A
• gnomAD v4: 3-101758069-C-A
• MyVariant Identifiers: chr3:g.101476913C>A (hg19) ; chr3:g.101758069C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758069C>A , CM000665.2:g.101758069C>A	GRCh38
NC_000003.11:g.101476913C>A , CM000665.1:g.101476913C>A	GRCh37
NC_000003.10:g.102959603C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1098C>A	ENSP00000419009.1:n.*1098C>A
ENST00000467655.2:c.*550C>A	ENSP00000418547.2:n.*550C>A
ENST00000704365.1:c.1463C>A	ENSP00000515873.1:p.Thr488Lys
ENST00000704366.1:c.1361C>A	ENSP00000515874.1:p.Thr454Lys
ENST00000704367.1:c.1184C>A	ENSP00000515875.1:p.Thr395Lys
ENST00000704368.1:n.1956C>A
ENST00000704369.1:c.977C>A	ENSP00000515876.1:p.Thr326Lys
ENST00000704370.1:c.1457C>A	ENSP00000515877.1:p.Thr486Lys
ENST00000704372.1:n.1817C>A
ENST00000704444.1:c.1247C>A	ENSP00000515896.1:p.Thr416Lys
ENST00000704445.1:c.1115C>A	ENSP00000515897.1:p.Thr372Lys
ENST00000704446.1:c.1048+873C>A	ENSP00000515898.1:n.1048+873C>A
ENST00000341893.8:c.1463C>A MANE Select	ENSP00000342510.3:p.Thr488Lys
ENST00000341893.7:c.1463C>A	ENSP00000342510.3:p.Thr488Lys
ENST00000467655.1:c.1078C>A	ENSP00000418547.1:n.1078C>A
ENST00000489172.5:n.1445C>A
ENST00000494050.5:c.1286C>A	ENSP00000418185.1:p.Thr429Lys
NM_001303401.1:c.1286C>A	NP_001290330.1:p.Thr429Lys
NM_024548.3:c.1463C>A	NP_078824.2:p.Thr488Lys
XM_006713743.2:c.1361C>A	XP_006713806.1:p.Thr454Lys
XM_011513125.1:c.1247C>A	XP_011511427.1:p.Thr416Lys
XM_011513126.1:c.1247C>A	XP_011511428.1:p.Thr416Lys
XM_011513127.1:c.1115C>A	XP_011511429.1:p.Thr372Lys
XM_006713743.4:c.1361C>A	XP_006713806.1:p.Thr454Lys
XM_017007178.2:c.1184C>A	XP_016862667.1:p.Thr395Lys
NM_024548.4:c.1463C>A MANE Select	NP_078824.2:p.Thr488Lys
NM_001303401.2:c.1286C>A	NP_001290330.1:p.Thr429Lys