Canonical Allele Identifier: CA353877569

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476879G>C (hg19) ; chr3:g.101758035G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758035G>C , CM000665.2:g.101758035G>C	GRCh38
NC_000003.11:g.101476879G>C , CM000665.1:g.101476879G>C	GRCh37
NC_000003.10:g.102959569G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1064G>C	ENSP00000419009.1:n.*1064G>C
ENST00000467655.2:c.*516G>C	ENSP00000418547.2:n.*516G>C
ENST00000704365.1:c.1429G>C	ENSP00000515873.1:p.Glu477Gln
ENST00000704366.1:c.1327G>C	ENSP00000515874.1:p.Glu443Gln
ENST00000704367.1:c.1150G>C	ENSP00000515875.1:p.Glu384Gln
ENST00000704368.1:n.1922G>C
ENST00000704369.1:c.943G>C	ENSP00000515876.1:p.Glu315Gln
ENST00000704370.1:c.1423G>C	ENSP00000515877.1:p.Glu475Gln
ENST00000704372.1:n.1783G>C
ENST00000704444.1:c.1213G>C	ENSP00000515896.1:p.Glu405Gln
ENST00000704445.1:c.1081G>C	ENSP00000515897.1:p.Glu361Gln
ENST00000704446.1:c.1048+839G>C	ENSP00000515898.1:n.1048+839G>C
ENST00000341893.8:c.1429G>C MANE Select	ENSP00000342510.3:p.Glu477Gln
ENST00000341893.7:c.1429G>C	ENSP00000342510.3:p.Glu477Gln
ENST00000467655.1:c.1044G>C	ENSP00000418547.1:n.1044G>C
ENST00000489172.5:n.1411G>C
ENST00000494050.5:c.1252G>C	ENSP00000418185.1:p.Glu418Gln
NM_001303401.1:c.1252G>C	NP_001290330.1:p.Glu418Gln
NM_024548.3:c.1429G>C	NP_078824.2:p.Glu477Gln
XM_006713743.2:c.1327G>C	XP_006713806.1:p.Glu443Gln
XM_011513125.1:c.1213G>C	XP_011511427.1:p.Glu405Gln
XM_011513126.1:c.1213G>C	XP_011511428.1:p.Glu405Gln
XM_011513127.1:c.1081G>C	XP_011511429.1:p.Glu361Gln
XM_006713743.4:c.1327G>C	XP_006713806.1:p.Glu443Gln
XM_017007178.2:c.1150G>C	XP_016862667.1:p.Glu384Gln
NM_024548.4:c.1429G>C MANE Select	NP_078824.2:p.Glu477Gln
NM_001303401.2:c.1252G>C	NP_001290330.1:p.Glu418Gln