Canonical Allele Identifier: CA353876936

Gene: CEP97

Linked Data

• dbSNP Id: rs773789109
• gnomAD v4: 3-101757816-A-G
• MyVariant Identifiers: chr3:g.101476660A>G (hg19) ; chr3:g.101757816A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757816A>G , CM000665.2:g.101757816A>G	GRCh38
NC_000003.11:g.101476660A>G , CM000665.1:g.101476660A>G	GRCh37
NC_000003.10:g.102959350A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*845A>G	ENSP00000419009.1:n.*845A>G
ENST00000467655.2:c.*297A>G	ENSP00000418547.2:n.*297A>G
ENST00000704365.1:c.1210A>G	ENSP00000515873.1:p.Thr404Ala
ENST00000704366.1:c.1108A>G	ENSP00000515874.1:p.Thr370Ala
ENST00000704367.1:c.931A>G	ENSP00000515875.1:p.Thr311Ala
ENST00000704368.1:n.1703A>G
ENST00000704369.1:c.724A>G	ENSP00000515876.1:p.Thr242Ala
ENST00000704370.1:c.1204A>G	ENSP00000515877.1:p.Thr402Ala
ENST00000704372.1:n.1564A>G
ENST00000704444.1:c.994A>G	ENSP00000515896.1:p.Thr332Ala
ENST00000704445.1:c.862A>G	ENSP00000515897.1:p.Thr288Ala
ENST00000704446.1:c.1048+620A>G	ENSP00000515898.1:n.1048+620A>G
ENST00000341893.8:c.1210A>G MANE Select	ENSP00000342510.3:p.Thr404Ala
ENST00000341893.7:c.1210A>G	ENSP00000342510.3:p.Thr404Ala
ENST00000467655.1:c.825A>G	ENSP00000418547.1:n.825A>G
ENST00000489172.5:n.1192A>G
ENST00000494050.5:c.1033A>G	ENSP00000418185.1:p.Thr345Ala
NM_001303401.1:c.1033A>G	NP_001290330.1:p.Thr345Ala
NM_024548.3:c.1210A>G	NP_078824.2:p.Thr404Ala
XM_006713743.2:c.1108A>G	XP_006713806.1:p.Thr370Ala
XM_011513125.1:c.994A>G	XP_011511427.1:p.Thr332Ala
XM_011513126.1:c.994A>G	XP_011511428.1:p.Thr332Ala
XM_011513127.1:c.862A>G	XP_011511429.1:p.Thr288Ala
XM_006713743.4:c.1108A>G	XP_006713806.1:p.Thr370Ala
XM_017007178.2:c.931A>G	XP_016862667.1:p.Thr311Ala
NM_024548.4:c.1210A>G MANE Select	NP_078824.2:p.Thr404Ala
NM_001303401.2:c.1033A>G	NP_001290330.1:p.Thr345Ala