Canonical Allele Identifier: CA353877779

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758129-C-A
• MyVariant Identifiers: chr3:g.101476973C>A (hg19) ; chr3:g.101758129C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758129C>A , CM000665.2:g.101758129C>A	GRCh38
NC_000003.11:g.101476973C>A , CM000665.1:g.101476973C>A	GRCh37
NC_000003.10:g.102959663C>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1158C>A	ENSP00000419009.1:n.*1158C>A
ENST00000467655.2:c.*610C>A	ENSP00000418547.2:n.*610C>A
ENST00000704365.1:c.1523C>A	ENSP00000515873.1:p.Thr508Asn
ENST00000704366.1:c.1421C>A	ENSP00000515874.1:p.Thr474Asn
ENST00000704367.1:c.1244C>A	ENSP00000515875.1:p.Thr415Asn
ENST00000704368.1:n.2016C>A
ENST00000704369.1:c.1037C>A	ENSP00000515876.1:p.Thr346Asn
ENST00000704370.1:c.1517C>A	ENSP00000515877.1:p.Thr506Asn
ENST00000704372.1:n.1877C>A
ENST00000704444.1:c.1307C>A	ENSP00000515896.1:p.Thr436Asn
ENST00000704445.1:c.1175C>A	ENSP00000515897.1:p.Thr392Asn
ENST00000704446.1:c.1048+933C>A	ENSP00000515898.1:n.1048+933C>A
ENST00000341893.8:c.1523C>A MANE Select	ENSP00000342510.3:p.Thr508Asn
ENST00000341893.7:c.1523C>A	ENSP00000342510.3:p.Thr508Asn
ENST00000467655.1:c.1138C>A	ENSP00000418547.1:n.1138C>A
ENST00000489172.5:n.1505C>A
ENST00000494050.5:c.1346C>A	ENSP00000418185.1:p.Thr449Asn
NM_001303401.1:c.1346C>A	NP_001290330.1:p.Thr449Asn
NM_024548.3:c.1523C>A	NP_078824.2:p.Thr508Asn
XM_006713743.2:c.1421C>A	XP_006713806.1:p.Thr474Asn
XM_011513125.1:c.1307C>A	XP_011511427.1:p.Thr436Asn
XM_011513126.1:c.1307C>A	XP_011511428.1:p.Thr436Asn
XM_011513127.1:c.1175C>A	XP_011511429.1:p.Thr392Asn
XM_006713743.4:c.1421C>A	XP_006713806.1:p.Thr474Asn
XM_017007178.2:c.1244C>A	XP_016862667.1:p.Thr415Asn
NM_024548.4:c.1523C>A MANE Select	NP_078824.2:p.Thr508Asn
NM_001303401.2:c.1346C>A	NP_001290330.1:p.Thr449Asn