Canonical Allele Identifier: CA434872969
Gene: CEP97 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.101476680A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.101757836A>T , CM000665.2:g.101757836A>T GRCh38
NC_000003.11:g.101476680A>T , CM000665.1:g.101476680A>T GRCh37
NC_000003.10:g.102959370A>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000465011.2:c.*865A>T ENSP00000419009.1:n.*865A>T
ENST00000467655.2:c.*317A>T ENSP00000418547.2:n.*317A>T
ENST00000704365.1:c.1230A>T ENSP00000515873.1:p.Ser410=
ENST00000704366.1:c.1128A>T ENSP00000515874.1:p.Ser376=
ENST00000704367.1:c.951A>T ENSP00000515875.1:p.Ser317=
ENST00000704368.1:n.1723A>T
ENST00000704369.1:c.744A>T ENSP00000515876.1:p.Ser248=
ENST00000704370.1:c.1224A>T ENSP00000515877.1:p.Ser408=
ENST00000704372.1:n.1584A>T
ENST00000704444.1:c.1014A>T ENSP00000515896.1:p.Ser338=
ENST00000704445.1:c.882A>T ENSP00000515897.1:p.Ser294=
ENST00000704446.1:c.1048+640A>T ENSP00000515898.1:n.1048+640A>T
ENST00000341893.8:c.1230A>T MANE Select ENSP00000342510.3:p.Ser410=
ENST00000341893.7:c.1230A>T ENSP00000342510.3:p.Ser410=
ENST00000467655.1:c.845A>T ENSP00000418547.1:n.845A>T
ENST00000489172.5:n.1212A>T
ENST00000494050.5:c.1053A>T ENSP00000418185.1:p.Ser351=
NM_001303401.1:c.1053A>T NP_001290330.1:p.Ser351=
NM_024548.3:c.1230A>T NP_078824.2:p.Ser410=
XM_006713743.2:c.1128A>T XP_006713806.1:p.Ser376=
XM_011513125.1:c.1014A>T XP_011511427.1:p.Ser338=
XM_011513126.1:c.1014A>T XP_011511428.1:p.Ser338=
XM_011513127.1:c.882A>T XP_011511429.1:p.Ser294=
XM_006713743.4:c.1128A>T XP_006713806.1:p.Ser376=
XM_017007178.2:c.951A>T XP_016862667.1:p.Ser317=
NM_024548.4:c.1230A>T MANE Select NP_078824.2:p.Ser410=
NM_001303401.2:c.1053A>T NP_001290330.1:p.Ser351=