Canonical Allele Identifier: CA79769021

Gene: CEP97

Linked Data

• dbSNP Id: rs971365442
• gnomAD v2: 3-101476972-A-G
• gnomAD v4: 3-101758128-A-G
• MyVariant Identifiers: chr3:g.101476972A>G (hg19) ; chr3:g.101758128A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758128A>G , CM000665.2:g.101758128A>G	GRCh38
NC_000003.11:g.101476972A>G , CM000665.1:g.101476972A>G	GRCh37
NC_000003.10:g.102959662A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1157A>G	ENSP00000419009.1:n.*1157A>G
ENST00000467655.2:c.*609A>G	ENSP00000418547.2:n.*609A>G
ENST00000704365.1:c.1522A>G	ENSP00000515873.1:p.Thr508Ala
ENST00000704366.1:c.1420A>G	ENSP00000515874.1:p.Thr474Ala
ENST00000704367.1:c.1243A>G	ENSP00000515875.1:p.Thr415Ala
ENST00000704368.1:n.2015A>G
ENST00000704369.1:c.1036A>G	ENSP00000515876.1:p.Thr346Ala
ENST00000704370.1:c.1516A>G	ENSP00000515877.1:p.Thr506Ala
ENST00000704372.1:n.1876A>G
ENST00000704444.1:c.1306A>G	ENSP00000515896.1:p.Thr436Ala
ENST00000704445.1:c.1174A>G	ENSP00000515897.1:p.Thr392Ala
ENST00000704446.1:c.1048+932A>G	ENSP00000515898.1:n.1048+932A>G
ENST00000341893.8:c.1522A>G MANE Select	ENSP00000342510.3:p.Thr508Ala
ENST00000341893.7:c.1522A>G	ENSP00000342510.3:p.Thr508Ala
ENST00000467655.1:c.1137A>G	ENSP00000418547.1:n.1137A>G
ENST00000489172.5:n.1504A>G
ENST00000494050.5:c.1345A>G	ENSP00000418185.1:p.Thr449Ala
NM_001303401.1:c.1345A>G	NP_001290330.1:p.Thr449Ala
NM_024548.3:c.1522A>G	NP_078824.2:p.Thr508Ala
XM_006713743.2:c.1420A>G	XP_006713806.1:p.Thr474Ala
XM_011513125.1:c.1306A>G	XP_011511427.1:p.Thr436Ala
XM_011513126.1:c.1306A>G	XP_011511428.1:p.Thr436Ala
XM_011513127.1:c.1174A>G	XP_011511429.1:p.Thr392Ala
XM_006713743.4:c.1420A>G	XP_006713806.1:p.Thr474Ala
XM_017007178.2:c.1243A>G	XP_016862667.1:p.Thr415Ala
NM_024548.4:c.1522A>G MANE Select	NP_078824.2:p.Thr508Ala
NM_001303401.2:c.1345A>G	NP_001290330.1:p.Thr449Ala