Canonical Allele Identifier: CA353876990
Gene: CEP97 HGNC NCBI

Linked Data

dbSNP Id: rs1444371449

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757823T>C , CM000665.2:g.101757823T>C GRCh38
NC_000003.11:g.101476667T>C , CM000665.1:g.101476667T>C GRCh37
NC_000003.10:g.102959357T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*852T>C ENSP00000419009.1:n.*852T>C
ENST00000467655.2:c.*304T>C ENSP00000418547.2:n.*304T>C
ENST00000704365.1:c.1217T>C ENSP00000515873.1:p.Met406Thr
ENST00000704366.1:c.1115T>C ENSP00000515874.1:p.Met372Thr
ENST00000704367.1:c.938T>C ENSP00000515875.1:p.Met313Thr
ENST00000704368.1:n.1710T>C
ENST00000704369.1:c.731T>C ENSP00000515876.1:p.Met244Thr
ENST00000704370.1:c.1211T>C ENSP00000515877.1:p.Met404Thr
ENST00000704372.1:n.1571T>C
ENST00000704444.1:c.1001T>C ENSP00000515896.1:p.Met334Thr
ENST00000704445.1:c.869T>C ENSP00000515897.1:p.Met290Thr
ENST00000704446.1:c.1048+627T>C ENSP00000515898.1:n.1048+627T>C
ENST00000341893.8:c.1217T>C MANE Select ENSP00000342510.3:p.Met406Thr
ENST00000341893.7:c.1217T>C ENSP00000342510.3:p.Met406Thr
ENST00000467655.1:c.832T>C ENSP00000418547.1:n.832T>C
ENST00000489172.5:n.1199T>C
ENST00000494050.5:c.1040T>C ENSP00000418185.1:p.Met347Thr
NM_001303401.1:c.1040T>C NP_001290330.1:p.Met347Thr
NM_024548.3:c.1217T>C NP_078824.2:p.Met406Thr
XM_006713743.2:c.1115T>C XP_006713806.1:p.Met372Thr
XM_011513125.1:c.1001T>C XP_011511427.1:p.Met334Thr
XM_011513126.1:c.1001T>C XP_011511428.1:p.Met334Thr
XM_011513127.1:c.869T>C XP_011511429.1:p.Met290Thr
XM_006713743.4:c.1115T>C XP_006713806.1:p.Met372Thr
XM_017007178.2:c.938T>C XP_016862667.1:p.Met313Thr
NM_024548.4:c.1217T>C MANE Select NP_078824.2:p.Met406Thr
NM_001303401.2:c.1040T>C NP_001290330.1:p.Met347Thr