Canonical Allele Identifier: CA353877772

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476969T>C (hg19) ; chr3:g.101758125T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758125T>C , CM000665.2:g.101758125T>C	GRCh38
NC_000003.11:g.101476969T>C , CM000665.1:g.101476969T>C	GRCh37
NC_000003.10:g.102959659T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1154T>C	ENSP00000419009.1:n.*1154T>C
ENST00000467655.2:c.*606T>C	ENSP00000418547.2:n.*606T>C
ENST00000704365.1:c.1519T>C	ENSP00000515873.1:p.Ser507Pro
ENST00000704366.1:c.1417T>C	ENSP00000515874.1:p.Ser473Pro
ENST00000704367.1:c.1240T>C	ENSP00000515875.1:p.Ser414Pro
ENST00000704368.1:n.2012T>C
ENST00000704369.1:c.1033T>C	ENSP00000515876.1:p.Ser345Pro
ENST00000704370.1:c.1513T>C	ENSP00000515877.1:p.Ser505Pro
ENST00000704372.1:n.1873T>C
ENST00000704444.1:c.1303T>C	ENSP00000515896.1:p.Ser435Pro
ENST00000704445.1:c.1171T>C	ENSP00000515897.1:p.Ser391Pro
ENST00000704446.1:c.1048+929T>C	ENSP00000515898.1:n.1048+929T>C
ENST00000341893.8:c.1519T>C MANE Select	ENSP00000342510.3:p.Ser507Pro
ENST00000341893.7:c.1519T>C	ENSP00000342510.3:p.Ser507Pro
ENST00000467655.1:c.1134T>C	ENSP00000418547.1:n.1134T>C
ENST00000489172.5:n.1501T>C
ENST00000494050.5:c.1342T>C	ENSP00000418185.1:p.Ser448Pro
NM_001303401.1:c.1342T>C	NP_001290330.1:p.Ser448Pro
NM_024548.3:c.1519T>C	NP_078824.2:p.Ser507Pro
XM_006713743.2:c.1417T>C	XP_006713806.1:p.Ser473Pro
XM_011513125.1:c.1303T>C	XP_011511427.1:p.Ser435Pro
XM_011513126.1:c.1303T>C	XP_011511428.1:p.Ser435Pro
XM_011513127.1:c.1171T>C	XP_011511429.1:p.Ser391Pro
XM_006713743.4:c.1417T>C	XP_006713806.1:p.Ser473Pro
XM_017007178.2:c.1240T>C	XP_016862667.1:p.Ser414Pro
NM_024548.4:c.1519T>C MANE Select	NP_078824.2:p.Ser507Pro
NM_001303401.2:c.1342T>C	NP_001290330.1:p.Ser448Pro