Canonical Allele Identifier: CA353877721

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476947C>G (hg19) ; chr3:g.101758103C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758103C>G , CM000665.2:g.101758103C>G	GRCh38
NC_000003.11:g.101476947C>G , CM000665.1:g.101476947C>G	GRCh37
NC_000003.10:g.102959637C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1132C>G	ENSP00000419009.1:n.*1132C>G
ENST00000467655.2:c.*584C>G	ENSP00000418547.2:n.*584C>G
ENST00000704365.1:c.1497C>G	ENSP00000515873.1:p.His499Gln
ENST00000704366.1:c.1395C>G	ENSP00000515874.1:p.His465Gln
ENST00000704367.1:c.1218C>G	ENSP00000515875.1:p.His406Gln
ENST00000704368.1:n.1990C>G
ENST00000704369.1:c.1011C>G	ENSP00000515876.1:p.His337Gln
ENST00000704370.1:c.1491C>G	ENSP00000515877.1:p.His497Gln
ENST00000704372.1:n.1851C>G
ENST00000704444.1:c.1281C>G	ENSP00000515896.1:p.His427Gln
ENST00000704445.1:c.1149C>G	ENSP00000515897.1:p.His383Gln
ENST00000704446.1:c.1048+907C>G	ENSP00000515898.1:n.1048+907C>G
ENST00000341893.8:c.1497C>G MANE Select	ENSP00000342510.3:p.His499Gln
ENST00000341893.7:c.1497C>G	ENSP00000342510.3:p.His499Gln
ENST00000467655.1:c.1112C>G	ENSP00000418547.1:n.1112C>G
ENST00000489172.5:n.1479C>G
ENST00000494050.5:c.1320C>G	ENSP00000418185.1:p.His440Gln
NM_001303401.1:c.1320C>G	NP_001290330.1:p.His440Gln
NM_024548.3:c.1497C>G	NP_078824.2:p.His499Gln
XM_006713743.2:c.1395C>G	XP_006713806.1:p.His465Gln
XM_011513125.1:c.1281C>G	XP_011511427.1:p.His427Gln
XM_011513126.1:c.1281C>G	XP_011511428.1:p.His427Gln
XM_011513127.1:c.1149C>G	XP_011511429.1:p.His383Gln
XM_006713743.4:c.1395C>G	XP_006713806.1:p.His465Gln
XM_017007178.2:c.1218C>G	XP_016862667.1:p.His406Gln
NM_024548.4:c.1497C>G MANE Select	NP_078824.2:p.His499Gln
NM_001303401.2:c.1320C>G	NP_001290330.1:p.His440Gln