Canonical Allele Identifier: CA79769043

Gene: CEP97

Linked Data

• dbSNP Id: rs937611088
• gnomAD v4: 3-101758167-A-G
• MyVariant Identifiers: chr3:g.101477011A>G (hg19) ; chr3:g.101758167A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758167A>G , CM000665.2:g.101758167A>G	GRCh38
NC_000003.11:g.101477011A>G , CM000665.1:g.101477011A>G	GRCh37
NC_000003.10:g.102959701A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1196A>G	ENSP00000419009.1:n.*1196A>G
ENST00000467655.2:c.*648A>G	ENSP00000418547.2:n.*648A>G
ENST00000704365.1:c.1561A>G	ENSP00000515873.1:p.Thr521Ala
ENST00000704366.1:c.1459A>G	ENSP00000515874.1:p.Thr487Ala
ENST00000704367.1:c.1282A>G	ENSP00000515875.1:p.Thr428Ala
ENST00000704368.1:n.2054A>G
ENST00000704369.1:c.1075A>G	ENSP00000515876.1:p.Thr359Ala
ENST00000704370.1:c.1555A>G	ENSP00000515877.1:p.Thr519Ala
ENST00000704372.1:n.1915A>G
ENST00000704444.1:c.1345A>G	ENSP00000515896.1:p.Thr449Ala
ENST00000704445.1:c.1213A>G	ENSP00000515897.1:p.Thr405Ala
ENST00000704446.1:c.1048+971A>G	ENSP00000515898.1:n.1048+971A>G
ENST00000341893.8:c.1561A>G MANE Select	ENSP00000342510.3:p.Thr521Ala
ENST00000341893.7:c.1561A>G	ENSP00000342510.3:p.Thr521Ala
ENST00000467655.1:c.1176A>G	ENSP00000418547.1:n.1176A>G
ENST00000489172.5:n.1543A>G
ENST00000494050.5:c.1384A>G	ENSP00000418185.1:p.Thr462Ala
NM_001303401.1:c.1384A>G	NP_001290330.1:p.Thr462Ala
NM_024548.3:c.1561A>G	NP_078824.2:p.Thr521Ala
XM_006713743.2:c.1459A>G	XP_006713806.1:p.Thr487Ala
XM_011513125.1:c.1345A>G	XP_011511427.1:p.Thr449Ala
XM_011513126.1:c.1345A>G	XP_011511428.1:p.Thr449Ala
XM_011513127.1:c.1213A>G	XP_011511429.1:p.Thr405Ala
XM_006713743.4:c.1459A>G	XP_006713806.1:p.Thr487Ala
XM_017007178.2:c.1282A>G	XP_016862667.1:p.Thr428Ala
NM_024548.4:c.1561A>G MANE Select	NP_078824.2:p.Thr521Ala
NM_001303401.2:c.1384A>G	NP_001290330.1:p.Thr462Ala