Canonical Allele Identifier: CA353886382

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2031808
• ClinVar RCV Id: RCV002867493
• gnomAD v4: 3-101731942-G-A
• MyVariant Identifiers: chr3:g.101450786G>A (hg19) ; chr3:g.101731942G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101731942G>A , CM000665.2:g.101731942G>A	GRCh38
NC_000003.11:g.101450786G>A , CM000665.1:g.101450786G>A	GRCh37
NC_000003.10:g.102933476G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*185G>A	ENSP00000419009.1:n.*185G>A
ENST00000467655.2:c.448G>A	ENSP00000418547.2:p.Asp150Asn
ENST00000704365.1:c.550G>A	ENSP00000515873.1:p.Asp184Asn
ENST00000704366.1:c.448G>A	ENSP00000515874.1:p.Asp150Asn
ENST00000704367.1:c.448G>A	ENSP00000515875.1:p.Asp150Asn
ENST00000704368.1:n.606G>A
ENST00000704369.1:c.64G>A	ENSP00000515876.1:p.Asp22Asn
ENST00000704370.1:c.544G>A	ENSP00000515877.1:p.Asp182Asn
ENST00000704371.1:n.541G>A
ENST00000704372.1:n.904G>A
ENST00000704444.1:c.334G>A	ENSP00000515896.1:p.Asp112Asn
ENST00000704445.1:c.202G>A	ENSP00000515897.1:p.Asp68Asn
ENST00000704446.1:c.571G>A	ENSP00000515898.1:p.Asp191Asn
ENST00000341893.8:c.550G>A MANE Select	ENSP00000342510.3:p.Asp184Asn
ENST00000341893.7:c.550G>A	ENSP00000342510.3:p.Asp184Asn
ENST00000465011.1:c.*185G>A	ENSP00000419009.1:n.*185G>A
ENST00000467655.1:c.175G>A	ENSP00000418547.1:p.Asp59Asn
ENST00000489172.5:n.532G>A
ENST00000494050.5:c.550G>A	ENSP00000418185.1:p.Asp184Asn
NM_001303401.1:c.550G>A	NP_001290330.1:p.Asp184Asn
NM_024548.3:c.550G>A	NP_078824.2:p.Asp184Asn
XM_006713743.2:c.448G>A	XP_006713806.1:p.Asp150Asn
XM_011513125.1:c.334G>A	XP_011511427.1:p.Asp112Asn
XM_011513126.1:c.334G>A	XP_011511428.1:p.Asp112Asn
XM_011513127.1:c.202G>A	XP_011511429.1:p.Asp68Asn
XM_006713743.4:c.448G>A	XP_006713806.1:p.Asp150Asn
XM_017007178.2:c.448G>A	XP_016862667.1:p.Asp150Asn
NM_024548.4:c.550G>A MANE Select	NP_078824.2:p.Asp184Asn
NM_001303401.2:c.550G>A	NP_001290330.1:p.Asp184Asn