Canonical Allele Identifier: CA353877707

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2876531
• ClinVar RCV Id: RCV003710335
• MyVariant Identifiers: chr3:g.101476942A>C (hg19) ; chr3:g.101758098A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758098A>C , CM000665.2:g.101758098A>C	GRCh38
NC_000003.11:g.101476942A>C , CM000665.1:g.101476942A>C	GRCh37
NC_000003.10:g.102959632A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1127A>C	ENSP00000419009.1:n.*1127A>C
ENST00000467655.2:c.*579A>C	ENSP00000418547.2:n.*579A>C
ENST00000704365.1:c.1492A>C	ENSP00000515873.1:p.Asn498His
ENST00000704366.1:c.1390A>C	ENSP00000515874.1:p.Asn464His
ENST00000704367.1:c.1213A>C	ENSP00000515875.1:p.Asn405His
ENST00000704368.1:n.1985A>C
ENST00000704369.1:c.1006A>C	ENSP00000515876.1:p.Asn336His
ENST00000704370.1:c.1486A>C	ENSP00000515877.1:p.Asn496His
ENST00000704372.1:n.1846A>C
ENST00000704444.1:c.1276A>C	ENSP00000515896.1:p.Asn426His
ENST00000704445.1:c.1144A>C	ENSP00000515897.1:p.Asn382His
ENST00000704446.1:c.1048+902A>C	ENSP00000515898.1:n.1048+902A>C
ENST00000341893.8:c.1492A>C MANE Select	ENSP00000342510.3:p.Asn498His
ENST00000341893.7:c.1492A>C	ENSP00000342510.3:p.Asn498His
ENST00000467655.1:c.1107A>C	ENSP00000418547.1:n.1107A>C
ENST00000489172.5:n.1474A>C
ENST00000494050.5:c.1315A>C	ENSP00000418185.1:p.Asn439His
NM_001303401.1:c.1315A>C	NP_001290330.1:p.Asn439His
NM_024548.3:c.1492A>C	NP_078824.2:p.Asn498His
XM_006713743.2:c.1390A>C	XP_006713806.1:p.Asn464His
XM_011513125.1:c.1276A>C	XP_011511427.1:p.Asn426His
XM_011513126.1:c.1276A>C	XP_011511428.1:p.Asn426His
XM_011513127.1:c.1144A>C	XP_011511429.1:p.Asn382His
XM_006713743.4:c.1390A>C	XP_006713806.1:p.Asn464His
XM_017007178.2:c.1213A>C	XP_016862667.1:p.Asn405His
NM_024548.4:c.1492A>C MANE Select	NP_078824.2:p.Asn498His
NM_001303401.2:c.1315A>C	NP_001290330.1:p.Asn439His