Canonical Allele Identifier: CA434873027

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476710G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757866G>A , CM000665.2:g.101757866G>A	GRCh38
NC_000003.11:g.101476710G>A , CM000665.1:g.101476710G>A	GRCh37
NC_000003.10:g.102959400G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*895G>A	ENSP00000419009.1:n.*895G>A
ENST00000467655.2:c.*347G>A	ENSP00000418547.2:n.*347G>A
ENST00000704365.1:c.1260G>A	ENSP00000515873.1:p.Glu420=
ENST00000704366.1:c.1158G>A	ENSP00000515874.1:p.Glu386=
ENST00000704367.1:c.981G>A	ENSP00000515875.1:p.Glu327=
ENST00000704368.1:n.1753G>A
ENST00000704369.1:c.774G>A	ENSP00000515876.1:p.Glu258=
ENST00000704370.1:c.1254G>A	ENSP00000515877.1:p.Glu418=
ENST00000704372.1:n.1614G>A
ENST00000704444.1:c.1044G>A	ENSP00000515896.1:p.Glu348=
ENST00000704445.1:c.912G>A	ENSP00000515897.1:p.Glu304=
ENST00000704446.1:c.1048+670G>A	ENSP00000515898.1:n.1048+670G>A
ENST00000341893.8:c.1260G>A MANE Select	ENSP00000342510.3:p.Glu420=
ENST00000341893.7:c.1260G>A	ENSP00000342510.3:p.Glu420=
ENST00000467655.1:c.875G>A	ENSP00000418547.1:n.875G>A
ENST00000489172.5:n.1242G>A
ENST00000494050.5:c.1083G>A	ENSP00000418185.1:p.Glu361=
NM_001303401.1:c.1083G>A	NP_001290330.1:p.Glu361=
NM_024548.3:c.1260G>A	NP_078824.2:p.Glu420=
XM_006713743.2:c.1158G>A	XP_006713806.1:p.Glu386=
XM_011513125.1:c.1044G>A	XP_011511427.1:p.Glu348=
XM_011513126.1:c.1044G>A	XP_011511428.1:p.Glu348=
XM_011513127.1:c.912G>A	XP_011511429.1:p.Glu304=
XM_006713743.4:c.1158G>A	XP_006713806.1:p.Glu386=
XM_017007178.2:c.981G>A	XP_016862667.1:p.Glu327=
NM_024548.4:c.1260G>A MANE Select	NP_078824.2:p.Glu420=
NM_001303401.2:c.1083G>A	NP_001290330.1:p.Glu361=