Canonical Allele Identifier: CA353877835

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476997A>T (hg19) ; chr3:g.101758153A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758153A>T , CM000665.2:g.101758153A>T	GRCh38
NC_000003.11:g.101476997A>T , CM000665.1:g.101476997A>T	GRCh37
NC_000003.10:g.102959687A>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1182A>T	ENSP00000419009.1:n.*1182A>T
ENST00000467655.2:c.*634A>T	ENSP00000418547.2:n.*634A>T
ENST00000704365.1:c.1547A>T	ENSP00000515873.1:p.Lys516Met
ENST00000704366.1:c.1445A>T	ENSP00000515874.1:p.Lys482Met
ENST00000704367.1:c.1268A>T	ENSP00000515875.1:p.Lys423Met
ENST00000704368.1:n.2040A>T
ENST00000704369.1:c.1061A>T	ENSP00000515876.1:p.Lys354Met
ENST00000704370.1:c.1541A>T	ENSP00000515877.1:p.Lys514Met
ENST00000704372.1:n.1901A>T
ENST00000704444.1:c.1331A>T	ENSP00000515896.1:p.Lys444Met
ENST00000704445.1:c.1199A>T	ENSP00000515897.1:p.Lys400Met
ENST00000704446.1:c.1048+957A>T	ENSP00000515898.1:n.1048+957A>T
ENST00000341893.8:c.1547A>T MANE Select	ENSP00000342510.3:p.Lys516Met
ENST00000341893.7:c.1547A>T	ENSP00000342510.3:p.Lys516Met
ENST00000467655.1:c.1162A>T	ENSP00000418547.1:n.1162A>T
ENST00000489172.5:n.1529A>T
ENST00000494050.5:c.1370A>T	ENSP00000418185.1:p.Lys457Met
NM_001303401.1:c.1370A>T	NP_001290330.1:p.Lys457Met
NM_024548.3:c.1547A>T	NP_078824.2:p.Lys516Met
XM_006713743.2:c.1445A>T	XP_006713806.1:p.Lys482Met
XM_011513125.1:c.1331A>T	XP_011511427.1:p.Lys444Met
XM_011513126.1:c.1331A>T	XP_011511428.1:p.Lys444Met
XM_011513127.1:c.1199A>T	XP_011511429.1:p.Lys400Met
XM_006713743.4:c.1445A>T	XP_006713806.1:p.Lys482Met
XM_017007178.2:c.1268A>T	XP_016862667.1:p.Lys423Met
NM_024548.4:c.1547A>T MANE Select	NP_078824.2:p.Lys516Met
NM_001303401.2:c.1370A>T	NP_001290330.1:p.Lys457Met