Canonical Allele Identifier: CA353877650

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758074-A-G
• COSMIC: COSM3845685 ; COSM3845686
• MyVariant Identifiers: chr3:g.101476918A>G (hg19) ; chr3:g.101758074A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758074A>G , CM000665.2:g.101758074A>G	GRCh38
NC_000003.11:g.101476918A>G , CM000665.1:g.101476918A>G	GRCh37
NC_000003.10:g.102959608A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1103A>G	ENSP00000419009.1:n.*1103A>G
ENST00000467655.2:c.*555A>G	ENSP00000418547.2:n.*555A>G
ENST00000704365.1:c.1468A>G	ENSP00000515873.1:p.Ile490Val
ENST00000704366.1:c.1366A>G	ENSP00000515874.1:p.Ile456Val
ENST00000704367.1:c.1189A>G	ENSP00000515875.1:p.Ile397Val
ENST00000704368.1:n.1961A>G
ENST00000704369.1:c.982A>G	ENSP00000515876.1:p.Ile328Val
ENST00000704370.1:c.1462A>G	ENSP00000515877.1:p.Ile488Val
ENST00000704372.1:n.1822A>G
ENST00000704444.1:c.1252A>G	ENSP00000515896.1:p.Ile418Val
ENST00000704445.1:c.1120A>G	ENSP00000515897.1:p.Ile374Val
ENST00000704446.1:c.1048+878A>G	ENSP00000515898.1:n.1048+878A>G
ENST00000341893.8:c.1468A>G MANE Select	ENSP00000342510.3:p.Ile490Val
ENST00000341893.7:c.1468A>G	ENSP00000342510.3:p.Ile490Val
ENST00000467655.1:c.1083A>G	ENSP00000418547.1:n.1083A>G
ENST00000489172.5:n.1450A>G
ENST00000494050.5:c.1291A>G	ENSP00000418185.1:p.Ile431Val
NM_001303401.1:c.1291A>G	NP_001290330.1:p.Ile431Val
NM_024548.3:c.1468A>G	NP_078824.2:p.Ile490Val
XM_006713743.2:c.1366A>G	XP_006713806.1:p.Ile456Val
XM_011513125.1:c.1252A>G	XP_011511427.1:p.Ile418Val
XM_011513126.1:c.1252A>G	XP_011511428.1:p.Ile418Val
XM_011513127.1:c.1120A>G	XP_011511429.1:p.Ile374Val
XM_006713743.4:c.1366A>G	XP_006713806.1:p.Ile456Val
XM_017007178.2:c.1189A>G	XP_016862667.1:p.Ile397Val
NM_024548.4:c.1468A>G MANE Select	NP_078824.2:p.Ile490Val
NM_001303401.2:c.1291A>G	NP_001290330.1:p.Ile431Val