Canonical Allele Identifier: CA434872982

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476686G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757842G>C , CM000665.2:g.101757842G>C	GRCh38
NC_000003.11:g.101476686G>C , CM000665.1:g.101476686G>C	GRCh37
NC_000003.10:g.102959376G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*871G>C	ENSP00000419009.1:n.*871G>C
ENST00000467655.2:c.*323G>C	ENSP00000418547.2:n.*323G>C
ENST00000704365.1:c.1236G>C	ENSP00000515873.1:p.Leu412=
ENST00000704366.1:c.1134G>C	ENSP00000515874.1:p.Leu378=
ENST00000704367.1:c.957G>C	ENSP00000515875.1:p.Leu319=
ENST00000704368.1:n.1729G>C
ENST00000704369.1:c.750G>C	ENSP00000515876.1:p.Leu250=
ENST00000704370.1:c.1230G>C	ENSP00000515877.1:p.Leu410=
ENST00000704372.1:n.1590G>C
ENST00000704444.1:c.1020G>C	ENSP00000515896.1:p.Leu340=
ENST00000704445.1:c.888G>C	ENSP00000515897.1:p.Leu296=
ENST00000704446.1:c.1048+646G>C	ENSP00000515898.1:n.1048+646G>C
ENST00000341893.8:c.1236G>C MANE Select	ENSP00000342510.3:p.Leu412=
ENST00000341893.7:c.1236G>C	ENSP00000342510.3:p.Leu412=
ENST00000467655.1:c.851G>C	ENSP00000418547.1:n.851G>C
ENST00000489172.5:n.1218G>C
ENST00000494050.5:c.1059G>C	ENSP00000418185.1:p.Leu353=
NM_001303401.1:c.1059G>C	NP_001290330.1:p.Leu353=
NM_024548.3:c.1236G>C	NP_078824.2:p.Leu412=
XM_006713743.2:c.1134G>C	XP_006713806.1:p.Leu378=
XM_011513125.1:c.1020G>C	XP_011511427.1:p.Leu340=
XM_011513126.1:c.1020G>C	XP_011511428.1:p.Leu340=
XM_011513127.1:c.888G>C	XP_011511429.1:p.Leu296=
XM_006713743.4:c.1134G>C	XP_006713806.1:p.Leu378=
XM_017007178.2:c.957G>C	XP_016862667.1:p.Leu319=
NM_024548.4:c.1236G>C MANE Select	NP_078824.2:p.Leu412=
NM_001303401.2:c.1059G>C	NP_001290330.1:p.Leu353=