Canonical Allele Identifier: CA353876863

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476645C>G (hg19) ; chr3:g.101757801C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757801C>G , CM000665.2:g.101757801C>G	GRCh38
NC_000003.11:g.101476645C>G , CM000665.1:g.101476645C>G	GRCh37
NC_000003.10:g.102959335C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*830C>G	ENSP00000419009.1:n.*830C>G
ENST00000467655.2:c.*282C>G	ENSP00000418547.2:n.*282C>G
ENST00000704365.1:c.1195C>G	ENSP00000515873.1:p.Leu399Val
ENST00000704366.1:c.1093C>G	ENSP00000515874.1:p.Leu365Val
ENST00000704367.1:c.926-10C>G	ENSP00000515875.1:n.926-10C>G
ENST00000704368.1:n.1688C>G
ENST00000704369.1:c.709C>G	ENSP00000515876.1:p.Leu237Val
ENST00000704370.1:c.1189C>G	ENSP00000515877.1:p.Leu397Val
ENST00000704372.1:n.1549C>G
ENST00000704444.1:c.979C>G	ENSP00000515896.1:p.Leu327Val
ENST00000704445.1:c.847C>G	ENSP00000515897.1:p.Leu283Val
ENST00000704446.1:c.1048+605C>G	ENSP00000515898.1:n.1048+605C>G
ENST00000341893.8:c.1195C>G MANE Select	ENSP00000342510.3:p.Leu399Val
ENST00000341893.7:c.1195C>G	ENSP00000342510.3:p.Leu399Val
ENST00000467655.1:c.810C>G	ENSP00000418547.1:n.810C>G
ENST00000489172.5:n.1177C>G
ENST00000494050.5:c.1028-10C>G	ENSP00000418185.1:n.1028-10C>G
NM_001303401.1:c.1028-10C>G	NP_001290330.1:n.1028-10C>G
NM_024548.3:c.1195C>G	NP_078824.2:p.Leu399Val
XM_006713743.2:c.1093C>G	XP_006713806.1:p.Leu365Val
XM_011513125.1:c.979C>G	XP_011511427.1:p.Leu327Val
XM_011513126.1:c.979C>G	XP_011511428.1:p.Leu327Val
XM_011513127.1:c.847C>G	XP_011511429.1:p.Leu283Val
XM_006713743.4:c.1093C>G	XP_006713806.1:p.Leu365Val
XM_017007178.2:c.926-10C>G	XP_016862667.1:n.926-10C>G
NM_024548.4:c.1195C>G MANE Select	NP_078824.2:p.Leu399Val
NM_001303401.2:c.1028-10C>G	NP_001290330.1:n.1028-10C>G