Canonical Allele Identifier: CA353877839
Gene: CEP97 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101758155A>T , CM000665.2:g.101758155A>T GRCh38
NC_000003.11:g.101476999A>T , CM000665.1:g.101476999A>T GRCh37
NC_000003.10:g.102959689A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*1184A>T ENSP00000419009.1:n.*1184A>T
ENST00000467655.2:c.*636A>T ENSP00000418547.2:n.*636A>T
ENST00000704365.1:c.1549A>T ENSP00000515873.1:p.Lys517Ter
ENST00000704366.1:c.1447A>T ENSP00000515874.1:p.Lys483Ter
ENST00000704367.1:c.1270A>T ENSP00000515875.1:p.Lys424Ter
ENST00000704368.1:n.2042A>T
ENST00000704369.1:c.1063A>T ENSP00000515876.1:p.Lys355Ter
ENST00000704370.1:c.1543A>T ENSP00000515877.1:p.Lys515Ter
ENST00000704372.1:n.1903A>T
ENST00000704444.1:c.1333A>T ENSP00000515896.1:p.Lys445Ter
ENST00000704445.1:c.1201A>T ENSP00000515897.1:p.Lys401Ter
ENST00000704446.1:c.1048+959A>T ENSP00000515898.1:n.1048+959A>T
ENST00000341893.8:c.1549A>T MANE Select ENSP00000342510.3:p.Lys517Ter
ENST00000341893.7:c.1549A>T ENSP00000342510.3:p.Lys517Ter
ENST00000467655.1:c.1164A>T ENSP00000418547.1:n.1164A>T
ENST00000489172.5:n.1531A>T
ENST00000494050.5:c.1372A>T ENSP00000418185.1:p.Lys458Ter
NM_001303401.1:c.1372A>T NP_001290330.1:p.Lys458Ter
NM_024548.3:c.1549A>T NP_078824.2:p.Lys517Ter
XM_006713743.2:c.1447A>T XP_006713806.1:p.Lys483Ter
XM_011513125.1:c.1333A>T XP_011511427.1:p.Lys445Ter
XM_011513126.1:c.1333A>T XP_011511428.1:p.Lys445Ter
XM_011513127.1:c.1201A>T XP_011511429.1:p.Lys401Ter
XM_006713743.4:c.1447A>T XP_006713806.1:p.Lys483Ter
XM_017007178.2:c.1270A>T XP_016862667.1:p.Lys424Ter
NM_024548.4:c.1549A>T MANE Select NP_078824.2:p.Lys517Ter
NM_001303401.2:c.1372A>T NP_001290330.1:p.Lys458Ter