Canonical Allele Identifier: CA2757692544

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757564T>C , CM000665.2:g.101757564T>C	GRCh38
NC_000003.11:g.101476408T>C , CM000665.1:g.101476408T>C	GRCh37
NC_000003.10:g.102959098T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000465011.2:c.*663-70T>C	ENSP00000419009.1:n.*663-70T>C
ENST00000467655.2:c.*115-70T>C	ENSP00000418547.2:n.*115-70T>C
ENST00000704365.1:c.1028-70T>C	ENSP00000515873.1:n.1028-70T>C
ENST00000704366.1:c.926-70T>C	ENSP00000515874.1:n.926-70T>C
ENST00000704367.1:c.926-247T>C	ENSP00000515875.1:n.926-247T>C
ENST00000704368.1:n.1451T>C
ENST00000704369.1:c.542-70T>C	ENSP00000515876.1:n.542-70T>C
ENST00000704370.1:c.1022-70T>C	ENSP00000515877.1:n.1022-70T>C
ENST00000704372.1:n.1382-70T>C
ENST00000704444.1:c.812-70T>C	ENSP00000515896.1:n.812-70T>C
ENST00000704445.1:c.680-70T>C	ENSP00000515897.1:n.680-70T>C
ENST00000704446.1:c.1048+368T>C	ENSP00000515898.1:n.1048+368T>C
ENST00000341893.8:c.1028-70T>C MANE Select	ENSP00000342510.3:n.1028-70T>C
ENST00000341893.7:c.1028-70T>C	ENSP00000342510.3:n.1028-70T>C
ENST00000467655.1:c.643-70T>C	ENSP00000418547.1:n.643-70T>C
ENST00000489172.5:n.1010-70T>C
ENST00000494050.5:c.1028-247T>C	ENSP00000418185.1:n.1028-247T>C
NM_001303401.1:c.1028-247T>C	NP_001290330.1:n.1028-247T>C
NM_024548.3:c.1028-70T>C	NP_078824.2:n.1028-70T>C
XM_006713743.2:c.926-70T>C	XP_006713806.1:n.926-70T>C
XM_011513125.1:c.812-70T>C	XP_011511427.1:n.812-70T>C
XM_011513126.1:c.812-70T>C	XP_011511428.1:n.812-70T>C
XM_011513127.1:c.680-70T>C	XP_011511429.1:n.680-70T>C
XM_006713743.4:c.926-70T>C	XP_006713806.1:n.926-70T>C
XM_017007178.2:c.926-247T>C	XP_016862667.1:n.926-247T>C
NM_024548.4:c.1028-70T>C MANE Select	NP_078824.2:n.1028-70T>C
NM_001303401.2:c.1028-247T>C	NP_001290330.1:n.1028-247T>C