Canonical Allele Identifier: CA79769031
Gene: CEP97 HGNC NCBI

Linked Data

dbSNP Id: rs922349539

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101758138A>C , CM000665.2:g.101758138A>C GRCh38
NC_000003.11:g.101476982A>C , CM000665.1:g.101476982A>C GRCh37
NC_000003.10:g.102959672A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*1167A>C ENSP00000419009.1:n.*1167A>C
ENST00000467655.2:c.*619A>C ENSP00000418547.2:n.*619A>C
ENST00000704365.1:c.1532A>C ENSP00000515873.1:p.Lys511Thr
ENST00000704366.1:c.1430A>C ENSP00000515874.1:p.Lys477Thr
ENST00000704367.1:c.1253A>C ENSP00000515875.1:p.Lys418Thr
ENST00000704368.1:n.2025A>C
ENST00000704369.1:c.1046A>C ENSP00000515876.1:p.Lys349Thr
ENST00000704370.1:c.1526A>C ENSP00000515877.1:p.Lys509Thr
ENST00000704372.1:n.1886A>C
ENST00000704444.1:c.1316A>C ENSP00000515896.1:p.Lys439Thr
ENST00000704445.1:c.1184A>C ENSP00000515897.1:p.Lys395Thr
ENST00000704446.1:c.1048+942A>C ENSP00000515898.1:n.1048+942A>C
ENST00000341893.8:c.1532A>C MANE Select ENSP00000342510.3:p.Lys511Thr
ENST00000341893.7:c.1532A>C ENSP00000342510.3:p.Lys511Thr
ENST00000467655.1:c.1147A>C ENSP00000418547.1:n.1147A>C
ENST00000489172.5:n.1514A>C
ENST00000494050.5:c.1355A>C ENSP00000418185.1:p.Lys452Thr
NM_001303401.1:c.1355A>C NP_001290330.1:p.Lys452Thr
NM_024548.3:c.1532A>C NP_078824.2:p.Lys511Thr
XM_006713743.2:c.1430A>C XP_006713806.1:p.Lys477Thr
XM_011513125.1:c.1316A>C XP_011511427.1:p.Lys439Thr
XM_011513126.1:c.1316A>C XP_011511428.1:p.Lys439Thr
XM_011513127.1:c.1184A>C XP_011511429.1:p.Lys395Thr
XM_006713743.4:c.1430A>C XP_006713806.1:p.Lys477Thr
XM_017007178.2:c.1253A>C XP_016862667.1:p.Lys418Thr
NM_024548.4:c.1532A>C MANE Select NP_078824.2:p.Lys511Thr
NM_001303401.2:c.1355A>C NP_001290330.1:p.Lys452Thr