Canonical Allele Identifier: CA434728267

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476611A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757767A>C , CM000665.2:g.101757767A>C	GRCh38
NC_000003.11:g.101476611A>C , CM000665.1:g.101476611A>C	GRCh37
NC_000003.10:g.102959301A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000465011.2:c.*796A>C	ENSP00000419009.1:n.*796A>C
ENST00000467655.2:c.*248A>C	ENSP00000418547.2:n.*248A>C
ENST00000704365.1:c.1161A>C	ENSP00000515873.1:p.Ile387=
ENST00000704366.1:c.1059A>C	ENSP00000515874.1:p.Ile353=
ENST00000704367.1:c.926-44A>C	ENSP00000515875.1:n.926-44A>C
ENST00000704368.1:n.1654A>C
ENST00000704369.1:c.675A>C	ENSP00000515876.1:p.Ile225=
ENST00000704370.1:c.1155A>C	ENSP00000515877.1:p.Ile385=
ENST00000704372.1:n.1515A>C
ENST00000704444.1:c.945A>C	ENSP00000515896.1:p.Ile315=
ENST00000704445.1:c.813A>C	ENSP00000515897.1:p.Ile271=
ENST00000704446.1:c.1048+571A>C	ENSP00000515898.1:n.1048+571A>C
ENST00000341893.8:c.1161A>C MANE Select	ENSP00000342510.3:p.Ile387=
ENST00000341893.7:c.1161A>C	ENSP00000342510.3:p.Ile387=
ENST00000467655.1:c.776A>C	ENSP00000418547.1:n.776A>C
ENST00000489172.5:n.1143A>C
ENST00000494050.5:c.1028-44A>C	ENSP00000418185.1:n.1028-44A>C
NM_001303401.1:c.1028-44A>C	NP_001290330.1:n.1028-44A>C
NM_024548.3:c.1161A>C	NP_078824.2:p.Ile387=
XM_006713743.2:c.1059A>C	XP_006713806.1:p.Ile353=
XM_011513125.1:c.945A>C	XP_011511427.1:p.Ile315=
XM_011513126.1:c.945A>C	XP_011511428.1:p.Ile315=
XM_011513127.1:c.813A>C	XP_011511429.1:p.Ile271=
XM_006713743.4:c.1059A>C	XP_006713806.1:p.Ile353=
XM_017007178.2:c.926-44A>C	XP_016862667.1:n.926-44A>C
NM_024548.4:c.1161A>C MANE Select	NP_078824.2:p.Ile387=
NM_001303401.2:c.1028-44A>C	NP_001290330.1:n.1028-44A>C