Canonical Allele Identifier: CA2522115

Gene: CEP97

Linked Data

• dbSNP Id: rs771402282
• ExAC: 3:101476806 G / A
• gnomAD v2: 3-101476806-G-A
• gnomAD v4: 3-101757962-G-A
• MyVariant Identifiers: chr3:g.101476806G>A (hg19) ; chr3:g.101757962G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757962G>A , CM000665.2:g.101757962G>A	GRCh38
NC_000003.11:g.101476806G>A , CM000665.1:g.101476806G>A	GRCh37
NC_000003.10:g.102959496G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*991G>A	ENSP00000419009.1:n.*991G>A
ENST00000467655.2:c.*443G>A	ENSP00000418547.2:n.*443G>A
ENST00000704365.1:c.1356G>A	ENSP00000515873.1:p.Glu452=
ENST00000704366.1:c.1254G>A	ENSP00000515874.1:p.Glu418=
ENST00000704367.1:c.1077G>A	ENSP00000515875.1:p.Glu359=
ENST00000704368.1:n.1849G>A
ENST00000704369.1:c.870G>A	ENSP00000515876.1:p.Glu290=
ENST00000704370.1:c.1350G>A	ENSP00000515877.1:p.Glu450=
ENST00000704372.1:n.1710G>A
ENST00000704444.1:c.1140G>A	ENSP00000515896.1:p.Glu380=
ENST00000704445.1:c.1008G>A	ENSP00000515897.1:p.Glu336=
ENST00000704446.1:c.1048+766G>A	ENSP00000515898.1:n.1048+766G>A
ENST00000341893.8:c.1356G>A MANE Select	ENSP00000342510.3:p.Glu452=
ENST00000341893.7:c.1356G>A	ENSP00000342510.3:p.Glu452=
ENST00000467655.1:c.971G>A	ENSP00000418547.1:n.971G>A
ENST00000489172.5:n.1338G>A
ENST00000494050.5:c.1179G>A	ENSP00000418185.1:p.Glu393=
NM_001303401.1:c.1179G>A	NP_001290330.1:p.Glu393=
NM_024548.3:c.1356G>A	NP_078824.2:p.Glu452=
XM_006713743.2:c.1254G>A	XP_006713806.1:p.Glu418=
XM_011513125.1:c.1140G>A	XP_011511427.1:p.Glu380=
XM_011513126.1:c.1140G>A	XP_011511428.1:p.Glu380=
XM_011513127.1:c.1008G>A	XP_011511429.1:p.Glu336=
XM_006713743.4:c.1254G>A	XP_006713806.1:p.Glu418=
XM_017007178.2:c.1077G>A	XP_016862667.1:p.Glu359=
NM_024548.4:c.1356G>A MANE Select	NP_078824.2:p.Glu452=
NM_001303401.2:c.1179G>A	NP_001290330.1:p.Glu393=