Canonical Allele Identifier: CA2522133

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2359169
• ClinVar RCV Id: RCV004200880
• dbSNP Id: rs781725649
• ExAC: 3:101476916 T / C
• gnomAD v2: 3-101476916-T-C
• gnomAD v4: 3-101758072-T-C
• MyVariant Identifiers: chr3:g.101476916T>C (hg19) ; chr3:g.101758072T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758072T>C , CM000665.2:g.101758072T>C	GRCh38
NC_000003.11:g.101476916T>C , CM000665.1:g.101476916T>C	GRCh37
NC_000003.10:g.102959606T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1101T>C	ENSP00000419009.1:n.*1101T>C
ENST00000467655.2:c.*553T>C	ENSP00000418547.2:n.*553T>C
ENST00000704365.1:c.1466T>C	ENSP00000515873.1:p.Ile489Thr
ENST00000704366.1:c.1364T>C	ENSP00000515874.1:p.Ile455Thr
ENST00000704367.1:c.1187T>C	ENSP00000515875.1:p.Ile396Thr
ENST00000704368.1:n.1959T>C
ENST00000704369.1:c.980T>C	ENSP00000515876.1:p.Ile327Thr
ENST00000704370.1:c.1460T>C	ENSP00000515877.1:p.Ile487Thr
ENST00000704372.1:n.1820T>C
ENST00000704444.1:c.1250T>C	ENSP00000515896.1:p.Ile417Thr
ENST00000704445.1:c.1118T>C	ENSP00000515897.1:p.Ile373Thr
ENST00000704446.1:c.1048+876T>C	ENSP00000515898.1:n.1048+876T>C
ENST00000341893.8:c.1466T>C MANE Select	ENSP00000342510.3:p.Ile489Thr
ENST00000341893.7:c.1466T>C	ENSP00000342510.3:p.Ile489Thr
ENST00000467655.1:c.1081T>C	ENSP00000418547.1:n.1081T>C
ENST00000489172.5:n.1448T>C
ENST00000494050.5:c.1289T>C	ENSP00000418185.1:p.Ile430Thr
NM_001303401.1:c.1289T>C	NP_001290330.1:p.Ile430Thr
NM_024548.3:c.1466T>C	NP_078824.2:p.Ile489Thr
XM_006713743.2:c.1364T>C	XP_006713806.1:p.Ile455Thr
XM_011513125.1:c.1250T>C	XP_011511427.1:p.Ile417Thr
XM_011513126.1:c.1250T>C	XP_011511428.1:p.Ile417Thr
XM_011513127.1:c.1118T>C	XP_011511429.1:p.Ile373Thr
XM_006713743.4:c.1364T>C	XP_006713806.1:p.Ile455Thr
XM_017007178.2:c.1187T>C	XP_016862667.1:p.Ile396Thr
NM_024548.4:c.1466T>C MANE Select	NP_078824.2:p.Ile489Thr
NM_001303401.2:c.1289T>C	NP_001290330.1:p.Ile430Thr