Canonical Allele Identifier: CA353877748

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476959T>G (hg19) ; chr3:g.101758115T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758115T>G , CM000665.2:g.101758115T>G	GRCh38
NC_000003.11:g.101476959T>G , CM000665.1:g.101476959T>G	GRCh37
NC_000003.10:g.102959649T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1144T>G	ENSP00000419009.1:n.*1144T>G
ENST00000467655.2:c.*596T>G	ENSP00000418547.2:n.*596T>G
ENST00000704365.1:c.1509T>G	ENSP00000515873.1:p.Phe503Leu
ENST00000704366.1:c.1407T>G	ENSP00000515874.1:p.Phe469Leu
ENST00000704367.1:c.1230T>G	ENSP00000515875.1:p.Phe410Leu
ENST00000704368.1:n.2002T>G
ENST00000704369.1:c.1023T>G	ENSP00000515876.1:p.Phe341Leu
ENST00000704370.1:c.1503T>G	ENSP00000515877.1:p.Phe501Leu
ENST00000704372.1:n.1863T>G
ENST00000704444.1:c.1293T>G	ENSP00000515896.1:p.Phe431Leu
ENST00000704445.1:c.1161T>G	ENSP00000515897.1:p.Phe387Leu
ENST00000704446.1:c.1048+919T>G	ENSP00000515898.1:n.1048+919T>G
ENST00000341893.8:c.1509T>G MANE Select	ENSP00000342510.3:p.Phe503Leu
ENST00000341893.7:c.1509T>G	ENSP00000342510.3:p.Phe503Leu
ENST00000467655.1:c.1124T>G	ENSP00000418547.1:n.1124T>G
ENST00000489172.5:n.1491T>G
ENST00000494050.5:c.1332T>G	ENSP00000418185.1:p.Phe444Leu
NM_001303401.1:c.1332T>G	NP_001290330.1:p.Phe444Leu
NM_024548.3:c.1509T>G	NP_078824.2:p.Phe503Leu
XM_006713743.2:c.1407T>G	XP_006713806.1:p.Phe469Leu
XM_011513125.1:c.1293T>G	XP_011511427.1:p.Phe431Leu
XM_011513126.1:c.1293T>G	XP_011511428.1:p.Phe431Leu
XM_011513127.1:c.1161T>G	XP_011511429.1:p.Phe387Leu
XM_006713743.4:c.1407T>G	XP_006713806.1:p.Phe469Leu
XM_017007178.2:c.1230T>G	XP_016862667.1:p.Phe410Leu
NM_024548.4:c.1509T>G MANE Select	NP_078824.2:p.Phe503Leu
NM_001303401.2:c.1332T>G	NP_001290330.1:p.Phe444Leu