Canonical Allele Identifier: CA2522136

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2995734
• ClinVar RCV Id: RCV003853821
• dbSNP Id: rs552501265
• ExAC: 3:101476927 A / G
• gnomAD v2: 3-101476927-A-G
• gnomAD v3: 3-101758083-A-G
• gnomAD v4: 3-101758083-A-G
• MyVariant Identifiers: chr3:g.101476927A>G (hg19) ; chr3:g.101758083A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758083A>G , CM000665.2:g.101758083A>G	GRCh38
NC_000003.11:g.101476927A>G , CM000665.1:g.101476927A>G	GRCh37
NC_000003.10:g.102959617A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1112A>G	ENSP00000419009.1:n.*1112A>G
ENST00000467655.2:c.*564A>G	ENSP00000418547.2:n.*564A>G
ENST00000704365.1:c.1477A>G	ENSP00000515873.1:p.Ile493Val
ENST00000704366.1:c.1375A>G	ENSP00000515874.1:p.Ile459Val
ENST00000704367.1:c.1198A>G	ENSP00000515875.1:p.Ile400Val
ENST00000704368.1:n.1970A>G
ENST00000704369.1:c.991A>G	ENSP00000515876.1:p.Ile331Val
ENST00000704370.1:c.1471A>G	ENSP00000515877.1:p.Ile491Val
ENST00000704372.1:n.1831A>G
ENST00000704444.1:c.1261A>G	ENSP00000515896.1:p.Ile421Val
ENST00000704445.1:c.1129A>G	ENSP00000515897.1:p.Ile377Val
ENST00000704446.1:c.1048+887A>G	ENSP00000515898.1:n.1048+887A>G
ENST00000341893.8:c.1477A>G MANE Select	ENSP00000342510.3:p.Ile493Val
ENST00000341893.7:c.1477A>G	ENSP00000342510.3:p.Ile493Val
ENST00000467655.1:c.1092A>G	ENSP00000418547.1:n.1092A>G
ENST00000489172.5:n.1459A>G
ENST00000494050.5:c.1300A>G	ENSP00000418185.1:p.Ile434Val
NM_001303401.1:c.1300A>G	NP_001290330.1:p.Ile434Val
NM_024548.3:c.1477A>G	NP_078824.2:p.Ile493Val
XM_006713743.2:c.1375A>G	XP_006713806.1:p.Ile459Val
XM_011513125.1:c.1261A>G	XP_011511427.1:p.Ile421Val
XM_011513126.1:c.1261A>G	XP_011511428.1:p.Ile421Val
XM_011513127.1:c.1129A>G	XP_011511429.1:p.Ile377Val
XM_006713743.4:c.1375A>G	XP_006713806.1:p.Ile459Val
XM_017007178.2:c.1198A>G	XP_016862667.1:p.Ile400Val
NM_024548.4:c.1477A>G MANE Select	NP_078824.2:p.Ile493Val
NM_001303401.2:c.1300A>G	NP_001290330.1:p.Ile434Val