Canonical Allele Identifier: CA353877419
Gene: CEP97 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757970C>A , CM000665.2:g.101757970C>A GRCh38
NC_000003.11:g.101476814C>A , CM000665.1:g.101476814C>A GRCh37
NC_000003.10:g.102959504C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*999C>A ENSP00000419009.1:n.*999C>A
ENST00000467655.2:c.*451C>A ENSP00000418547.2:n.*451C>A
ENST00000704365.1:c.1364C>A ENSP00000515873.1:p.Pro455His
ENST00000704366.1:c.1262C>A ENSP00000515874.1:p.Pro421His
ENST00000704367.1:c.1085C>A ENSP00000515875.1:p.Pro362His
ENST00000704368.1:n.1857C>A
ENST00000704369.1:c.878C>A ENSP00000515876.1:p.Pro293His
ENST00000704370.1:c.1358C>A ENSP00000515877.1:p.Pro453His
ENST00000704372.1:n.1718C>A
ENST00000704444.1:c.1148C>A ENSP00000515896.1:p.Pro383His
ENST00000704445.1:c.1016C>A ENSP00000515897.1:p.Pro339His
ENST00000704446.1:c.1048+774C>A ENSP00000515898.1:n.1048+774C>A
ENST00000341893.8:c.1364C>A MANE Select ENSP00000342510.3:p.Pro455His
ENST00000341893.7:c.1364C>A ENSP00000342510.3:p.Pro455His
ENST00000467655.1:c.979C>A ENSP00000418547.1:n.979C>A
ENST00000489172.5:n.1346C>A
ENST00000494050.5:c.1187C>A ENSP00000418185.1:p.Pro396His
NM_001303401.1:c.1187C>A NP_001290330.1:p.Pro396His
NM_024548.3:c.1364C>A NP_078824.2:p.Pro455His
XM_006713743.2:c.1262C>A XP_006713806.1:p.Pro421His
XM_011513125.1:c.1148C>A XP_011511427.1:p.Pro383His
XM_011513126.1:c.1148C>A XP_011511428.1:p.Pro383His
XM_011513127.1:c.1016C>A XP_011511429.1:p.Pro339His
XM_006713743.4:c.1262C>A XP_006713806.1:p.Pro421His
XM_017007178.2:c.1085C>A XP_016862667.1:p.Pro362His
NM_024548.4:c.1364C>A MANE Select NP_078824.2:p.Pro455His
NM_001303401.2:c.1187C>A NP_001290330.1:p.Pro396His