Canonical Allele Identifier: CA353877678

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476931T>A (hg19) ; chr3:g.101758087T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758087T>A , CM000665.2:g.101758087T>A	GRCh38
NC_000003.11:g.101476931T>A , CM000665.1:g.101476931T>A	GRCh37
NC_000003.10:g.102959621T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1116T>A	ENSP00000419009.1:n.*1116T>A
ENST00000467655.2:c.*568T>A	ENSP00000418547.2:n.*568T>A
ENST00000704365.1:c.1481T>A	ENSP00000515873.1:p.Leu494Ter
ENST00000704366.1:c.1379T>A	ENSP00000515874.1:p.Leu460Ter
ENST00000704367.1:c.1202T>A	ENSP00000515875.1:p.Leu401Ter
ENST00000704368.1:n.1974T>A
ENST00000704369.1:c.995T>A	ENSP00000515876.1:p.Leu332Ter
ENST00000704370.1:c.1475T>A	ENSP00000515877.1:p.Leu492Ter
ENST00000704372.1:n.1835T>A
ENST00000704444.1:c.1265T>A	ENSP00000515896.1:p.Leu422Ter
ENST00000704445.1:c.1133T>A	ENSP00000515897.1:p.Leu378Ter
ENST00000704446.1:c.1048+891T>A	ENSP00000515898.1:n.1048+891T>A
ENST00000341893.8:c.1481T>A MANE Select	ENSP00000342510.3:p.Leu494Ter
ENST00000341893.7:c.1481T>A	ENSP00000342510.3:p.Leu494Ter
ENST00000467655.1:c.1096T>A	ENSP00000418547.1:n.1096T>A
ENST00000489172.5:n.1463T>A
ENST00000494050.5:c.1304T>A	ENSP00000418185.1:p.Leu435Ter
NM_001303401.1:c.1304T>A	NP_001290330.1:p.Leu435Ter
NM_024548.3:c.1481T>A	NP_078824.2:p.Leu494Ter
XM_006713743.2:c.1379T>A	XP_006713806.1:p.Leu460Ter
XM_011513125.1:c.1265T>A	XP_011511427.1:p.Leu422Ter
XM_011513126.1:c.1265T>A	XP_011511428.1:p.Leu422Ter
XM_011513127.1:c.1133T>A	XP_011511429.1:p.Leu378Ter
XM_006713743.4:c.1379T>A	XP_006713806.1:p.Leu460Ter
XM_017007178.2:c.1202T>A	XP_016862667.1:p.Leu401Ter
NM_024548.4:c.1481T>A MANE Select	NP_078824.2:p.Leu494Ter
NM_001303401.2:c.1304T>A	NP_001290330.1:p.Leu435Ter