Canonical Allele Identifier: CA353877761
Gene: CEP97 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101758120C>G , CM000665.2:g.101758120C>G GRCh38
NC_000003.11:g.101476964C>G , CM000665.1:g.101476964C>G GRCh37
NC_000003.10:g.102959654C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*1149C>G ENSP00000419009.1:n.*1149C>G
ENST00000467655.2:c.*601C>G ENSP00000418547.2:n.*601C>G
ENST00000704365.1:c.1514C>G ENSP00000515873.1:p.Pro505Arg
ENST00000704366.1:c.1412C>G ENSP00000515874.1:p.Pro471Arg
ENST00000704367.1:c.1235C>G ENSP00000515875.1:p.Pro412Arg
ENST00000704368.1:n.2007C>G
ENST00000704369.1:c.1028C>G ENSP00000515876.1:p.Pro343Arg
ENST00000704370.1:c.1508C>G ENSP00000515877.1:p.Pro503Arg
ENST00000704372.1:n.1868C>G
ENST00000704444.1:c.1298C>G ENSP00000515896.1:p.Pro433Arg
ENST00000704445.1:c.1166C>G ENSP00000515897.1:p.Pro389Arg
ENST00000704446.1:c.1048+924C>G ENSP00000515898.1:n.1048+924C>G
ENST00000341893.8:c.1514C>G MANE Select ENSP00000342510.3:p.Pro505Arg
ENST00000341893.7:c.1514C>G ENSP00000342510.3:p.Pro505Arg
ENST00000467655.1:c.1129C>G ENSP00000418547.1:n.1129C>G
ENST00000489172.5:n.1496C>G
ENST00000494050.5:c.1337C>G ENSP00000418185.1:p.Pro446Arg
NM_001303401.1:c.1337C>G NP_001290330.1:p.Pro446Arg
NM_024548.3:c.1514C>G NP_078824.2:p.Pro505Arg
XM_006713743.2:c.1412C>G XP_006713806.1:p.Pro471Arg
XM_011513125.1:c.1298C>G XP_011511427.1:p.Pro433Arg
XM_011513126.1:c.1298C>G XP_011511428.1:p.Pro433Arg
XM_011513127.1:c.1166C>G XP_011511429.1:p.Pro389Arg
XM_006713743.4:c.1412C>G XP_006713806.1:p.Pro471Arg
XM_017007178.2:c.1235C>G XP_016862667.1:p.Pro412Arg
NM_024548.4:c.1514C>G MANE Select NP_078824.2:p.Pro505Arg
NM_001303401.2:c.1337C>G NP_001290330.1:p.Pro446Arg