Canonical Allele Identifier: CA353877114

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476694T>A (hg19) ; chr3:g.101757850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757850T>A , CM000665.2:g.101757850T>A	GRCh38
NC_000003.11:g.101476694T>A , CM000665.1:g.101476694T>A	GRCh37
NC_000003.10:g.102959384T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*879T>A	ENSP00000419009.1:n.*879T>A
ENST00000467655.2:c.*331T>A	ENSP00000418547.2:n.*331T>A
ENST00000704365.1:c.1244T>A	ENSP00000515873.1:p.Leu415Gln
ENST00000704366.1:c.1142T>A	ENSP00000515874.1:p.Leu381Gln
ENST00000704367.1:c.965T>A	ENSP00000515875.1:p.Leu322Gln
ENST00000704368.1:n.1737T>A
ENST00000704369.1:c.758T>A	ENSP00000515876.1:p.Leu253Gln
ENST00000704370.1:c.1238T>A	ENSP00000515877.1:p.Leu413Gln
ENST00000704372.1:n.1598T>A
ENST00000704444.1:c.1028T>A	ENSP00000515896.1:p.Leu343Gln
ENST00000704445.1:c.896T>A	ENSP00000515897.1:p.Leu299Gln
ENST00000704446.1:c.1048+654T>A	ENSP00000515898.1:n.1048+654T>A
ENST00000341893.8:c.1244T>A MANE Select	ENSP00000342510.3:p.Leu415Gln
ENST00000341893.7:c.1244T>A	ENSP00000342510.3:p.Leu415Gln
ENST00000467655.1:c.859T>A	ENSP00000418547.1:n.859T>A
ENST00000489172.5:n.1226T>A
ENST00000494050.5:c.1067T>A	ENSP00000418185.1:p.Leu356Gln
NM_001303401.1:c.1067T>A	NP_001290330.1:p.Leu356Gln
NM_024548.3:c.1244T>A	NP_078824.2:p.Leu415Gln
XM_006713743.2:c.1142T>A	XP_006713806.1:p.Leu381Gln
XM_011513125.1:c.1028T>A	XP_011511427.1:p.Leu343Gln
XM_011513126.1:c.1028T>A	XP_011511428.1:p.Leu343Gln
XM_011513127.1:c.896T>A	XP_011511429.1:p.Leu299Gln
XM_006713743.4:c.1142T>A	XP_006713806.1:p.Leu381Gln
XM_017007178.2:c.965T>A	XP_016862667.1:p.Leu322Gln
NM_024548.4:c.1244T>A MANE Select	NP_078824.2:p.Leu415Gln
NM_001303401.2:c.1067T>A	NP_001290330.1:p.Leu356Gln