Canonical Allele Identifier: CA434873006
Gene: CEP97 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.101476698A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757854A>C , CM000665.2:g.101757854A>C GRCh38
NC_000003.11:g.101476698A>C , CM000665.1:g.101476698A>C GRCh37
NC_000003.10:g.102959388A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*883A>C ENSP00000419009.1:n.*883A>C
ENST00000467655.2:c.*335A>C ENSP00000418547.2:n.*335A>C
ENST00000704365.1:c.1248A>C ENSP00000515873.1:p.Ser416=
ENST00000704366.1:c.1146A>C ENSP00000515874.1:p.Ser382=
ENST00000704367.1:c.969A>C ENSP00000515875.1:p.Ser323=
ENST00000704368.1:n.1741A>C
ENST00000704369.1:c.762A>C ENSP00000515876.1:p.Ser254=
ENST00000704370.1:c.1242A>C ENSP00000515877.1:p.Ser414=
ENST00000704372.1:n.1602A>C
ENST00000704444.1:c.1032A>C ENSP00000515896.1:p.Ser344=
ENST00000704445.1:c.900A>C ENSP00000515897.1:p.Ser300=
ENST00000704446.1:c.1048+658A>C ENSP00000515898.1:n.1048+658A>C
ENST00000341893.8:c.1248A>C MANE Select ENSP00000342510.3:p.Ser416=
ENST00000341893.7:c.1248A>C ENSP00000342510.3:p.Ser416=
ENST00000467655.1:c.863A>C ENSP00000418547.1:n.863A>C
ENST00000489172.5:n.1230A>C
ENST00000494050.5:c.1071A>C ENSP00000418185.1:p.Ser357=
NM_001303401.1:c.1071A>C NP_001290330.1:p.Ser357=
NM_024548.3:c.1248A>C NP_078824.2:p.Ser416=
XM_006713743.2:c.1146A>C XP_006713806.1:p.Ser382=
XM_011513125.1:c.1032A>C XP_011511427.1:p.Ser344=
XM_011513126.1:c.1032A>C XP_011511428.1:p.Ser344=
XM_011513127.1:c.900A>C XP_011511429.1:p.Ser300=
XM_006713743.4:c.1146A>C XP_006713806.1:p.Ser382=
XM_017007178.2:c.969A>C XP_016862667.1:p.Ser323=
NM_024548.4:c.1248A>C MANE Select NP_078824.2:p.Ser416=
NM_001303401.2:c.1071A>C NP_001290330.1:p.Ser357=