Canonical Allele Identifier: CA1388867450
Gene: CEP97 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757855C= , CM000665.2:g.101757855C= GRCh38
NC_000003.11:g.101476699C= , CM000665.1:g.101476699C= GRCh37
NC_000003.10:g.102959389C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*884C= ENSP00000419009.1:n.*884C=
ENST00000467655.2:c.*336C= ENSP00000418547.2:n.*336C=
ENST00000704365.1:c.1249C= ENSP00000515873.1:p.Pro417=
ENST00000704366.1:c.1147C= ENSP00000515874.1:p.Pro383=
ENST00000704367.1:c.970C= ENSP00000515875.1:p.Pro324=
ENST00000704368.1:n.1742C=
ENST00000704369.1:c.763C= ENSP00000515876.1:p.Pro255=
ENST00000704370.1:c.1243C= ENSP00000515877.1:p.Pro415=
ENST00000704372.1:n.1603C=
ENST00000704444.1:c.1033C= ENSP00000515896.1:p.Pro345=
ENST00000704445.1:c.901C= ENSP00000515897.1:p.Pro301=
ENST00000704446.1:c.1048+659C= ENSP00000515898.1:n.1048+659C=
ENST00000341893.8:c.1249C= MANE Select ENSP00000342510.3:p.Pro417=
ENST00000341893.7:c.1249C= ENSP00000342510.3:p.Pro417=
ENST00000467655.1:c.864C= ENSP00000418547.1:n.864C=
ENST00000489172.5:n.1231C=
ENST00000494050.5:c.1072C= ENSP00000418185.1:p.Pro358=
NM_001303401.1:c.1072C= NP_001290330.1:p.Pro358=
NM_024548.3:c.1249C= NP_078824.2:p.Pro417=
XM_006713743.2:c.1147C= XP_006713806.1:p.Pro383=
XM_011513125.1:c.1033C= XP_011511427.1:p.Pro345=
XM_011513126.1:c.1033C= XP_011511428.1:p.Pro345=
XM_011513127.1:c.901C= XP_011511429.1:p.Pro301=
XM_006713743.4:c.1147C= XP_006713806.1:p.Pro383=
XM_017007178.2:c.970C= XP_016862667.1:p.Pro324=
NM_024548.4:c.1249C= MANE Select NP_078824.2:p.Pro417=
NM_001303401.2:c.1072C= NP_001290330.1:p.Pro358=