Canonical Allele Identifier: CA353877040

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476678T>A (hg19) ; chr3:g.101757834T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757834T>A , CM000665.2:g.101757834T>A	GRCh38
NC_000003.11:g.101476678T>A , CM000665.1:g.101476678T>A	GRCh37
NC_000003.10:g.102959368T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*863T>A	ENSP00000419009.1:n.*863T>A
ENST00000467655.2:c.*315T>A	ENSP00000418547.2:n.*315T>A
ENST00000704365.1:c.1228T>A	ENSP00000515873.1:p.Ser410Thr
ENST00000704366.1:c.1126T>A	ENSP00000515874.1:p.Ser376Thr
ENST00000704367.1:c.949T>A	ENSP00000515875.1:p.Ser317Thr
ENST00000704368.1:n.1721T>A
ENST00000704369.1:c.742T>A	ENSP00000515876.1:p.Ser248Thr
ENST00000704370.1:c.1222T>A	ENSP00000515877.1:p.Ser408Thr
ENST00000704372.1:n.1582T>A
ENST00000704444.1:c.1012T>A	ENSP00000515896.1:p.Ser338Thr
ENST00000704445.1:c.880T>A	ENSP00000515897.1:p.Ser294Thr
ENST00000704446.1:c.1048+638T>A	ENSP00000515898.1:n.1048+638T>A
ENST00000341893.8:c.1228T>A MANE Select	ENSP00000342510.3:p.Ser410Thr
ENST00000341893.7:c.1228T>A	ENSP00000342510.3:p.Ser410Thr
ENST00000467655.1:c.843T>A	ENSP00000418547.1:n.843T>A
ENST00000489172.5:n.1210T>A
ENST00000494050.5:c.1051T>A	ENSP00000418185.1:p.Ser351Thr
NM_001303401.1:c.1051T>A	NP_001290330.1:p.Ser351Thr
NM_024548.3:c.1228T>A	NP_078824.2:p.Ser410Thr
XM_006713743.2:c.1126T>A	XP_006713806.1:p.Ser376Thr
XM_011513125.1:c.1012T>A	XP_011511427.1:p.Ser338Thr
XM_011513126.1:c.1012T>A	XP_011511428.1:p.Ser338Thr
XM_011513127.1:c.880T>A	XP_011511429.1:p.Ser294Thr
XM_006713743.4:c.1126T>A	XP_006713806.1:p.Ser376Thr
XM_017007178.2:c.949T>A	XP_016862667.1:p.Ser317Thr
NM_024548.4:c.1228T>A MANE Select	NP_078824.2:p.Ser410Thr
NM_001303401.2:c.1051T>A	NP_001290330.1:p.Ser351Thr