Canonical Allele Identifier: CA353877853

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101477005G>C (hg19) ; chr3:g.101758161G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758161G>C , CM000665.2:g.101758161G>C	GRCh38
NC_000003.11:g.101477005G>C , CM000665.1:g.101477005G>C	GRCh37
NC_000003.10:g.102959695G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1190G>C	ENSP00000419009.1:n.*1190G>C
ENST00000467655.2:c.*642G>C	ENSP00000418547.2:n.*642G>C
ENST00000704365.1:c.1555G>C	ENSP00000515873.1:p.Glu519Gln
ENST00000704366.1:c.1453G>C	ENSP00000515874.1:p.Glu485Gln
ENST00000704367.1:c.1276G>C	ENSP00000515875.1:p.Glu426Gln
ENST00000704368.1:n.2048G>C
ENST00000704369.1:c.1069G>C	ENSP00000515876.1:p.Glu357Gln
ENST00000704370.1:c.1549G>C	ENSP00000515877.1:p.Glu517Gln
ENST00000704372.1:n.1909G>C
ENST00000704444.1:c.1339G>C	ENSP00000515896.1:p.Glu447Gln
ENST00000704445.1:c.1207G>C	ENSP00000515897.1:p.Glu403Gln
ENST00000704446.1:c.1048+965G>C	ENSP00000515898.1:n.1048+965G>C
ENST00000341893.8:c.1555G>C MANE Select	ENSP00000342510.3:p.Glu519Gln
ENST00000341893.7:c.1555G>C	ENSP00000342510.3:p.Glu519Gln
ENST00000467655.1:c.1170G>C	ENSP00000418547.1:n.1170G>C
ENST00000489172.5:n.1537G>C
ENST00000494050.5:c.1378G>C	ENSP00000418185.1:p.Glu460Gln
NM_001303401.1:c.1378G>C	NP_001290330.1:p.Glu460Gln
NM_024548.3:c.1555G>C	NP_078824.2:p.Glu519Gln
XM_006713743.2:c.1453G>C	XP_006713806.1:p.Glu485Gln
XM_011513125.1:c.1339G>C	XP_011511427.1:p.Glu447Gln
XM_011513126.1:c.1339G>C	XP_011511428.1:p.Glu447Gln
XM_011513127.1:c.1207G>C	XP_011511429.1:p.Glu403Gln
XM_006713743.4:c.1453G>C	XP_006713806.1:p.Glu485Gln
XM_017007178.2:c.1276G>C	XP_016862667.1:p.Glu426Gln
NM_024548.4:c.1555G>C MANE Select	NP_078824.2:p.Glu519Gln
NM_001303401.2:c.1378G>C	NP_001290330.1:p.Glu460Gln