Canonical Allele Identifier: CA353877618

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476902T>A (hg19) ; chr3:g.101758058T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758058T>A , CM000665.2:g.101758058T>A	GRCh38
NC_000003.11:g.101476902T>A , CM000665.1:g.101476902T>A	GRCh37
NC_000003.10:g.102959592T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1087T>A	ENSP00000419009.1:n.*1087T>A
ENST00000467655.2:c.*539T>A	ENSP00000418547.2:n.*539T>A
ENST00000704365.1:c.1452T>A	ENSP00000515873.1:p.Cys484Ter
ENST00000704366.1:c.1350T>A	ENSP00000515874.1:p.Cys450Ter
ENST00000704367.1:c.1173T>A	ENSP00000515875.1:p.Cys391Ter
ENST00000704368.1:n.1945T>A
ENST00000704369.1:c.966T>A	ENSP00000515876.1:p.Cys322Ter
ENST00000704370.1:c.1446T>A	ENSP00000515877.1:p.Cys482Ter
ENST00000704372.1:n.1806T>A
ENST00000704444.1:c.1236T>A	ENSP00000515896.1:p.Cys412Ter
ENST00000704445.1:c.1104T>A	ENSP00000515897.1:p.Cys368Ter
ENST00000704446.1:c.1048+862T>A	ENSP00000515898.1:n.1048+862T>A
ENST00000341893.8:c.1452T>A MANE Select	ENSP00000342510.3:p.Cys484Ter
ENST00000341893.7:c.1452T>A	ENSP00000342510.3:p.Cys484Ter
ENST00000467655.1:c.1067T>A	ENSP00000418547.1:n.1067T>A
ENST00000489172.5:n.1434T>A
ENST00000494050.5:c.1275T>A	ENSP00000418185.1:p.Cys425Ter
NM_001303401.1:c.1275T>A	NP_001290330.1:p.Cys425Ter
NM_024548.3:c.1452T>A	NP_078824.2:p.Cys484Ter
XM_006713743.2:c.1350T>A	XP_006713806.1:p.Cys450Ter
XM_011513125.1:c.1236T>A	XP_011511427.1:p.Cys412Ter
XM_011513126.1:c.1236T>A	XP_011511428.1:p.Cys412Ter
XM_011513127.1:c.1104T>A	XP_011511429.1:p.Cys368Ter
XM_006713743.4:c.1350T>A	XP_006713806.1:p.Cys450Ter
XM_017007178.2:c.1173T>A	XP_016862667.1:p.Cys391Ter
NM_024548.4:c.1452T>A MANE Select	NP_078824.2:p.Cys484Ter
NM_001303401.2:c.1275T>A	NP_001290330.1:p.Cys425Ter