Canonical Allele Identifier: CA353877716

Gene: CEP97

Linked Data

• dbSNP Id: rs1560020219
• gnomAD v4: 3-101758101-C-A
• MyVariant Identifiers: chr3:g.101476945C>A (hg19) ; chr3:g.101758101C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758101C>A , CM000665.2:g.101758101C>A	GRCh38
NC_000003.11:g.101476945C>A , CM000665.1:g.101476945C>A	GRCh37
NC_000003.10:g.102959635C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1130C>A	ENSP00000419009.1:n.*1130C>A
ENST00000467655.2:c.*582C>A	ENSP00000418547.2:n.*582C>A
ENST00000704365.1:c.1495C>A	ENSP00000515873.1:p.His499Asn
ENST00000704366.1:c.1393C>A	ENSP00000515874.1:p.His465Asn
ENST00000704367.1:c.1216C>A	ENSP00000515875.1:p.His406Asn
ENST00000704368.1:n.1988C>A
ENST00000704369.1:c.1009C>A	ENSP00000515876.1:p.His337Asn
ENST00000704370.1:c.1489C>A	ENSP00000515877.1:p.His497Asn
ENST00000704372.1:n.1849C>A
ENST00000704444.1:c.1279C>A	ENSP00000515896.1:p.His427Asn
ENST00000704445.1:c.1147C>A	ENSP00000515897.1:p.His383Asn
ENST00000704446.1:c.1048+905C>A	ENSP00000515898.1:n.1048+905C>A
ENST00000341893.8:c.1495C>A MANE Select	ENSP00000342510.3:p.His499Asn
ENST00000341893.7:c.1495C>A	ENSP00000342510.3:p.His499Asn
ENST00000467655.1:c.1110C>A	ENSP00000418547.1:n.1110C>A
ENST00000489172.5:n.1477C>A
ENST00000494050.5:c.1318C>A	ENSP00000418185.1:p.His440Asn
NM_001303401.1:c.1318C>A	NP_001290330.1:p.His440Asn
NM_024548.3:c.1495C>A	NP_078824.2:p.His499Asn
XM_006713743.2:c.1393C>A	XP_006713806.1:p.His465Asn
XM_011513125.1:c.1279C>A	XP_011511427.1:p.His427Asn
XM_011513126.1:c.1279C>A	XP_011511428.1:p.His427Asn
XM_011513127.1:c.1147C>A	XP_011511429.1:p.His383Asn
XM_006713743.4:c.1393C>A	XP_006713806.1:p.His465Asn
XM_017007178.2:c.1216C>A	XP_016862667.1:p.His406Asn
NM_024548.4:c.1495C>A MANE Select	NP_078824.2:p.His499Asn
NM_001303401.2:c.1318C>A	NP_001290330.1:p.His440Asn