Canonical Allele Identifier: CA434873091

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476995A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758151A>T , CM000665.2:g.101758151A>T	GRCh38
NC_000003.11:g.101476995A>T , CM000665.1:g.101476995A>T	GRCh37
NC_000003.10:g.102959685A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1180A>T	ENSP00000419009.1:n.*1180A>T
ENST00000467655.2:c.*632A>T	ENSP00000418547.2:n.*632A>T
ENST00000704365.1:c.1545A>T	ENSP00000515873.1:p.Ile515=
ENST00000704366.1:c.1443A>T	ENSP00000515874.1:p.Ile481=
ENST00000704367.1:c.1266A>T	ENSP00000515875.1:p.Ile422=
ENST00000704368.1:n.2038A>T
ENST00000704369.1:c.1059A>T	ENSP00000515876.1:p.Ile353=
ENST00000704370.1:c.1539A>T	ENSP00000515877.1:p.Ile513=
ENST00000704372.1:n.1899A>T
ENST00000704444.1:c.1329A>T	ENSP00000515896.1:p.Ile443=
ENST00000704445.1:c.1197A>T	ENSP00000515897.1:p.Ile399=
ENST00000704446.1:c.1048+955A>T	ENSP00000515898.1:n.1048+955A>T
ENST00000341893.8:c.1545A>T MANE Select	ENSP00000342510.3:p.Ile515=
ENST00000341893.7:c.1545A>T	ENSP00000342510.3:p.Ile515=
ENST00000467655.1:c.1160A>T	ENSP00000418547.1:n.1160A>T
ENST00000489172.5:n.1527A>T
ENST00000494050.5:c.1368A>T	ENSP00000418185.1:p.Ile456=
NM_001303401.1:c.1368A>T	NP_001290330.1:p.Ile456=
NM_024548.3:c.1545A>T	NP_078824.2:p.Ile515=
XM_006713743.2:c.1443A>T	XP_006713806.1:p.Ile481=
XM_011513125.1:c.1329A>T	XP_011511427.1:p.Ile443=
XM_011513126.1:c.1329A>T	XP_011511428.1:p.Ile443=
XM_011513127.1:c.1197A>T	XP_011511429.1:p.Ile399=
XM_006713743.4:c.1443A>T	XP_006713806.1:p.Ile481=
XM_017007178.2:c.1266A>T	XP_016862667.1:p.Ile422=
NM_024548.4:c.1545A>T MANE Select	NP_078824.2:p.Ile515=
NM_001303401.2:c.1368A>T	NP_001290330.1:p.Ile456=