Canonical Allele Identifier: CA353876542

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476603G>A (hg19) ; chr3:g.101757759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757759G>A , CM000665.2:g.101757759G>A	GRCh38
NC_000003.11:g.101476603G>A , CM000665.1:g.101476603G>A	GRCh37
NC_000003.10:g.102959293G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000465011.2:c.*788G>A	ENSP00000419009.1:n.*788G>A
ENST00000467655.2:c.*240G>A	ENSP00000418547.2:n.*240G>A
ENST00000704365.1:c.1153G>A	ENSP00000515873.1:p.Glu385Lys
ENST00000704366.1:c.1051G>A	ENSP00000515874.1:p.Glu351Lys
ENST00000704367.1:c.926-52G>A	ENSP00000515875.1:n.926-52G>A
ENST00000704368.1:n.1646G>A
ENST00000704369.1:c.667G>A	ENSP00000515876.1:p.Glu223Lys
ENST00000704370.1:c.1147G>A	ENSP00000515877.1:p.Glu383Lys
ENST00000704372.1:n.1507G>A
ENST00000704444.1:c.937G>A	ENSP00000515896.1:p.Glu313Lys
ENST00000704445.1:c.805G>A	ENSP00000515897.1:p.Glu269Lys
ENST00000704446.1:c.1048+563G>A	ENSP00000515898.1:n.1048+563G>A
ENST00000341893.8:c.1153G>A MANE Select	ENSP00000342510.3:p.Glu385Lys
ENST00000341893.7:c.1153G>A	ENSP00000342510.3:p.Glu385Lys
ENST00000467655.1:c.768G>A	ENSP00000418547.1:n.768G>A
ENST00000489172.5:n.1135G>A
ENST00000494050.5:c.1028-52G>A	ENSP00000418185.1:n.1028-52G>A
NM_001303401.1:c.1028-52G>A	NP_001290330.1:n.1028-52G>A
NM_024548.3:c.1153G>A	NP_078824.2:p.Glu385Lys
XM_006713743.2:c.1051G>A	XP_006713806.1:p.Glu351Lys
XM_011513125.1:c.937G>A	XP_011511427.1:p.Glu313Lys
XM_011513126.1:c.937G>A	XP_011511428.1:p.Glu313Lys
XM_011513127.1:c.805G>A	XP_011511429.1:p.Glu269Lys
XM_006713743.4:c.1051G>A	XP_006713806.1:p.Glu351Lys
XM_017007178.2:c.926-52G>A	XP_016862667.1:n.926-52G>A
NM_024548.4:c.1153G>A MANE Select	NP_078824.2:p.Glu385Lys
NM_001303401.2:c.1028-52G>A	NP_001290330.1:n.1028-52G>A