Canonical Allele Identifier: CA353877460
Gene: CEP97 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757988A>G , CM000665.2:g.101757988A>G GRCh38
NC_000003.11:g.101476832A>G , CM000665.1:g.101476832A>G GRCh37
NC_000003.10:g.102959522A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*1017A>G ENSP00000419009.1:n.*1017A>G
ENST00000467655.2:c.*469A>G ENSP00000418547.2:n.*469A>G
ENST00000704365.1:c.1382A>G ENSP00000515873.1:p.Glu461Gly
ENST00000704366.1:c.1280A>G ENSP00000515874.1:p.Glu427Gly
ENST00000704367.1:c.1103A>G ENSP00000515875.1:p.Glu368Gly
ENST00000704368.1:n.1875A>G
ENST00000704369.1:c.896A>G ENSP00000515876.1:p.Glu299Gly
ENST00000704370.1:c.1376A>G ENSP00000515877.1:p.Glu459Gly
ENST00000704372.1:n.1736A>G
ENST00000704444.1:c.1166A>G ENSP00000515896.1:p.Glu389Gly
ENST00000704445.1:c.1034A>G ENSP00000515897.1:p.Glu345Gly
ENST00000704446.1:c.1048+792A>G ENSP00000515898.1:n.1048+792A>G
ENST00000341893.8:c.1382A>G MANE Select ENSP00000342510.3:p.Glu461Gly
ENST00000341893.7:c.1382A>G ENSP00000342510.3:p.Glu461Gly
ENST00000467655.1:c.997A>G ENSP00000418547.1:n.997A>G
ENST00000489172.5:n.1364A>G
ENST00000494050.5:c.1205A>G ENSP00000418185.1:p.Glu402Gly
NM_001303401.1:c.1205A>G NP_001290330.1:p.Glu402Gly
NM_024548.3:c.1382A>G NP_078824.2:p.Glu461Gly
XM_006713743.2:c.1280A>G XP_006713806.1:p.Glu427Gly
XM_011513125.1:c.1166A>G XP_011511427.1:p.Glu389Gly
XM_011513126.1:c.1166A>G XP_011511428.1:p.Glu389Gly
XM_011513127.1:c.1034A>G XP_011511429.1:p.Glu345Gly
XM_006713743.4:c.1280A>G XP_006713806.1:p.Glu427Gly
XM_017007178.2:c.1103A>G XP_016862667.1:p.Glu368Gly
NM_024548.4:c.1382A>G MANE Select NP_078824.2:p.Glu461Gly
NM_001303401.2:c.1205A>G NP_001290330.1:p.Glu402Gly