Canonical Allele Identifier: CA353877697

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476938T>G (hg19) ; chr3:g.101758094T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758094T>G , CM000665.2:g.101758094T>G	GRCh38
NC_000003.11:g.101476938T>G , CM000665.1:g.101476938T>G	GRCh37
NC_000003.10:g.102959628T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1123T>G	ENSP00000419009.1:n.*1123T>G
ENST00000467655.2:c.*575T>G	ENSP00000418547.2:n.*575T>G
ENST00000704365.1:c.1488T>G	ENSP00000515873.1:p.Asp496Glu
ENST00000704366.1:c.1386T>G	ENSP00000515874.1:p.Asp462Glu
ENST00000704367.1:c.1209T>G	ENSP00000515875.1:p.Asp403Glu
ENST00000704368.1:n.1981T>G
ENST00000704369.1:c.1002T>G	ENSP00000515876.1:p.Asp334Glu
ENST00000704370.1:c.1482T>G	ENSP00000515877.1:p.Asp494Glu
ENST00000704372.1:n.1842T>G
ENST00000704444.1:c.1272T>G	ENSP00000515896.1:p.Asp424Glu
ENST00000704445.1:c.1140T>G	ENSP00000515897.1:p.Asp380Glu
ENST00000704446.1:c.1048+898T>G	ENSP00000515898.1:n.1048+898T>G
ENST00000341893.8:c.1488T>G MANE Select	ENSP00000342510.3:p.Asp496Glu
ENST00000341893.7:c.1488T>G	ENSP00000342510.3:p.Asp496Glu
ENST00000467655.1:c.1103T>G	ENSP00000418547.1:n.1103T>G
ENST00000489172.5:n.1470T>G
ENST00000494050.5:c.1311T>G	ENSP00000418185.1:p.Asp437Glu
NM_001303401.1:c.1311T>G	NP_001290330.1:p.Asp437Glu
NM_024548.3:c.1488T>G	NP_078824.2:p.Asp496Glu
XM_006713743.2:c.1386T>G	XP_006713806.1:p.Asp462Glu
XM_011513125.1:c.1272T>G	XP_011511427.1:p.Asp424Glu
XM_011513126.1:c.1272T>G	XP_011511428.1:p.Asp424Glu
XM_011513127.1:c.1140T>G	XP_011511429.1:p.Asp380Glu
XM_006713743.4:c.1386T>G	XP_006713806.1:p.Asp462Glu
XM_017007178.2:c.1209T>G	XP_016862667.1:p.Asp403Glu
NM_024548.4:c.1488T>G MANE Select	NP_078824.2:p.Asp496Glu
NM_001303401.2:c.1311T>G	NP_001290330.1:p.Asp437Glu