Canonical Allele Identifier: CA16609505
Gene: CEP97 HGNC NCBI

Linked Data

ClinVar Variation Id: 402141
ClinVar RCV Id: RCV000454159
dbSNP Id: rs1060499739

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757754A>G , CM000665.2:g.101757754A>G GRCh38
NC_000003.11:g.101476598A>G , CM000665.1:g.101476598A>G GRCh37
NC_000003.10:g.102959288A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000465011.2:c.*783A>G ENSP00000419009.1:n.*783A>G
ENST00000467655.2:c.*235A>G ENSP00000418547.2:n.*235A>G
ENST00000704365.1:c.1148A>G ENSP00000515873.1:p.His383Arg
ENST00000704366.1:c.1046A>G ENSP00000515874.1:p.His349Arg
ENST00000704367.1:c.926-57A>G ENSP00000515875.1:n.926-57A>G
ENST00000704368.1:n.1641A>G
ENST00000704369.1:c.662A>G ENSP00000515876.1:p.His221Arg
ENST00000704370.1:c.1142A>G ENSP00000515877.1:p.His381Arg
ENST00000704372.1:n.1502A>G
ENST00000704444.1:c.932A>G ENSP00000515896.1:p.His311Arg
ENST00000704445.1:c.800A>G ENSP00000515897.1:p.His267Arg
ENST00000704446.1:c.1048+558A>G ENSP00000515898.1:n.1048+558A>G
ENST00000341893.8:c.1148A>G MANE Select ENSP00000342510.3:p.His383Arg
ENST00000341893.7:c.1148A>G ENSP00000342510.3:p.His383Arg
ENST00000467655.1:c.763A>G ENSP00000418547.1:n.763A>G
ENST00000489172.5:n.1130A>G
ENST00000494050.5:c.1028-57A>G ENSP00000418185.1:n.1028-57A>G
NM_001303401.1:c.1028-57A>G NP_001290330.1:n.1028-57A>G
NM_024548.3:c.1148A>G NP_078824.2:p.His383Arg
XM_006713743.2:c.1046A>G XP_006713806.1:p.His349Arg
XM_011513125.1:c.932A>G XP_011511427.1:p.His311Arg
XM_011513126.1:c.932A>G XP_011511428.1:p.His311Arg
XM_011513127.1:c.800A>G XP_011511429.1:p.His267Arg
XM_006713743.4:c.1046A>G XP_006713806.1:p.His349Arg
XM_017007178.2:c.926-57A>G XP_016862667.1:n.926-57A>G
NM_024548.4:c.1148A>G MANE Select NP_078824.2:p.His383Arg
NM_001303401.2:c.1028-57A>G NP_001290330.1:n.1028-57A>G