Canonical Allele Identifier: CA353877725

Gene: CEP97

Linked Data

• COSMIC: COSM3364909 ; COSM3364910
• MyVariant Identifiers: chr3:g.101476949G>A (hg19) ; chr3:g.101758105G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758105G>A , CM000665.2:g.101758105G>A	GRCh38
NC_000003.11:g.101476949G>A , CM000665.1:g.101476949G>A	GRCh37
NC_000003.10:g.102959639G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1134G>A	ENSP00000419009.1:n.*1134G>A
ENST00000467655.2:c.*586G>A	ENSP00000418547.2:n.*586G>A
ENST00000704365.1:c.1499G>A	ENSP00000515873.1:p.Ser500Asn
ENST00000704366.1:c.1397G>A	ENSP00000515874.1:p.Ser466Asn
ENST00000704367.1:c.1220G>A	ENSP00000515875.1:p.Ser407Asn
ENST00000704368.1:n.1992G>A
ENST00000704369.1:c.1013G>A	ENSP00000515876.1:p.Ser338Asn
ENST00000704370.1:c.1493G>A	ENSP00000515877.1:p.Ser498Asn
ENST00000704372.1:n.1853G>A
ENST00000704444.1:c.1283G>A	ENSP00000515896.1:p.Ser428Asn
ENST00000704445.1:c.1151G>A	ENSP00000515897.1:p.Ser384Asn
ENST00000704446.1:c.1048+909G>A	ENSP00000515898.1:n.1048+909G>A
ENST00000341893.8:c.1499G>A MANE Select	ENSP00000342510.3:p.Ser500Asn
ENST00000341893.7:c.1499G>A	ENSP00000342510.3:p.Ser500Asn
ENST00000467655.1:c.1114G>A	ENSP00000418547.1:n.1114G>A
ENST00000489172.5:n.1481G>A
ENST00000494050.5:c.1322G>A	ENSP00000418185.1:p.Ser441Asn
NM_001303401.1:c.1322G>A	NP_001290330.1:p.Ser441Asn
NM_024548.3:c.1499G>A	NP_078824.2:p.Ser500Asn
XM_006713743.2:c.1397G>A	XP_006713806.1:p.Ser466Asn
XM_011513125.1:c.1283G>A	XP_011511427.1:p.Ser428Asn
XM_011513126.1:c.1283G>A	XP_011511428.1:p.Ser428Asn
XM_011513127.1:c.1151G>A	XP_011511429.1:p.Ser384Asn
XM_006713743.4:c.1397G>A	XP_006713806.1:p.Ser466Asn
XM_017007178.2:c.1220G>A	XP_016862667.1:p.Ser407Asn
NM_024548.4:c.1499G>A MANE Select	NP_078824.2:p.Ser500Asn
NM_001303401.2:c.1322G>A	NP_001290330.1:p.Ser441Asn