Canonical Allele Identifier: CA434873050

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758124-G-A
• MyVariant Identifiers: chr3:g.101476968G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758124G>A , CM000665.2:g.101758124G>A	GRCh38
NC_000003.11:g.101476968G>A , CM000665.1:g.101476968G>A	GRCh37
NC_000003.10:g.102959658G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1153G>A	ENSP00000419009.1:n.*1153G>A
ENST00000467655.2:c.*605G>A	ENSP00000418547.2:n.*605G>A
ENST00000704365.1:c.1518G>A	ENSP00000515873.1:p.Glu506=
ENST00000704366.1:c.1416G>A	ENSP00000515874.1:p.Glu472=
ENST00000704367.1:c.1239G>A	ENSP00000515875.1:p.Glu413=
ENST00000704368.1:n.2011G>A
ENST00000704369.1:c.1032G>A	ENSP00000515876.1:p.Glu344=
ENST00000704370.1:c.1512G>A	ENSP00000515877.1:p.Glu504=
ENST00000704372.1:n.1872G>A
ENST00000704444.1:c.1302G>A	ENSP00000515896.1:p.Glu434=
ENST00000704445.1:c.1170G>A	ENSP00000515897.1:p.Glu390=
ENST00000704446.1:c.1048+928G>A	ENSP00000515898.1:n.1048+928G>A
ENST00000341893.8:c.1518G>A MANE Select	ENSP00000342510.3:p.Glu506=
ENST00000341893.7:c.1518G>A	ENSP00000342510.3:p.Glu506=
ENST00000467655.1:c.1133G>A	ENSP00000418547.1:n.1133G>A
ENST00000489172.5:n.1500G>A
ENST00000494050.5:c.1341G>A	ENSP00000418185.1:p.Glu447=
NM_001303401.1:c.1341G>A	NP_001290330.1:p.Glu447=
NM_024548.3:c.1518G>A	NP_078824.2:p.Glu506=
XM_006713743.2:c.1416G>A	XP_006713806.1:p.Glu472=
XM_011513125.1:c.1302G>A	XP_011511427.1:p.Glu434=
XM_011513126.1:c.1302G>A	XP_011511428.1:p.Glu434=
XM_011513127.1:c.1170G>A	XP_011511429.1:p.Glu390=
XM_006713743.4:c.1416G>A	XP_006713806.1:p.Glu472=
XM_017007178.2:c.1239G>A	XP_016862667.1:p.Glu413=
NM_024548.4:c.1518G>A MANE Select	NP_078824.2:p.Glu506=
NM_001303401.2:c.1341G>A	NP_001290330.1:p.Glu447=