Canonical Allele Identifier: CA353877679

Gene: CEP97

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1116T>C	ENSP00000419009.1:n.*1116T>C
ENST00000467655.2:c.*568T>C	ENSP00000418547.2:n.*568T>C
ENST00000704365.1:c.1481T>C	ENSP00000515873.1:p.Leu494Ser
ENST00000704366.1:c.1379T>C	ENSP00000515874.1:p.Leu460Ser
ENST00000704367.1:c.1202T>C	ENSP00000515875.1:p.Leu401Ser
ENST00000704368.1:n.1974T>C
ENST00000704369.1:c.995T>C	ENSP00000515876.1:p.Leu332Ser
ENST00000704370.1:c.1475T>C	ENSP00000515877.1:p.Leu492Ser
ENST00000704372.1:n.1835T>C
ENST00000704444.1:c.1265T>C	ENSP00000515896.1:p.Leu422Ser
ENST00000704445.1:c.1133T>C	ENSP00000515897.1:p.Leu378Ser
ENST00000704446.1:c.1048+891T>C	ENSP00000515898.1:n.1048+891T>C
ENST00000341893.8:c.1481T>C MANE Select	ENSP00000342510.3:p.Leu494Ser
ENST00000341893.7:c.1481T>C	ENSP00000342510.3:p.Leu494Ser
ENST00000467655.1:c.1096T>C	ENSP00000418547.1:n.1096T>C
ENST00000489172.5:n.1463T>C
ENST00000494050.5:c.1304T>C	ENSP00000418185.1:p.Leu435Ser
NM_001303401.1:c.1304T>C	NP_001290330.1:p.Leu435Ser
NM_024548.3:c.1481T>C	NP_078824.2:p.Leu494Ser
XM_006713743.2:c.1379T>C	XP_006713806.1:p.Leu460Ser
XM_011513125.1:c.1265T>C	XP_011511427.1:p.Leu422Ser
XM_011513126.1:c.1265T>C	XP_011511428.1:p.Leu422Ser
XM_011513127.1:c.1133T>C	XP_011511429.1:p.Leu378Ser
XM_006713743.4:c.1379T>C	XP_006713806.1:p.Leu460Ser
XM_017007178.2:c.1202T>C	XP_016862667.1:p.Leu401Ser
NM_024548.4:c.1481T>C MANE Select	NP_078824.2:p.Leu494Ser
NM_001303401.2:c.1304T>C	NP_001290330.1:p.Leu435Ser