Canonical Allele Identifier: CA353877142

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476700C>T (hg19) ; chr3:g.101757856C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757856C>T , CM000665.2:g.101757856C>T	GRCh38
NC_000003.11:g.101476700C>T , CM000665.1:g.101476700C>T	GRCh37
NC_000003.10:g.102959390C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*885C>T	ENSP00000419009.1:n.*885C>T
ENST00000467655.2:c.*337C>T	ENSP00000418547.2:n.*337C>T
ENST00000704365.1:c.1250C>T	ENSP00000515873.1:p.Pro417Leu
ENST00000704366.1:c.1148C>T	ENSP00000515874.1:p.Pro383Leu
ENST00000704367.1:c.971C>T	ENSP00000515875.1:p.Pro324Leu
ENST00000704368.1:n.1743C>T
ENST00000704369.1:c.764C>T	ENSP00000515876.1:p.Pro255Leu
ENST00000704370.1:c.1244C>T	ENSP00000515877.1:p.Pro415Leu
ENST00000704372.1:n.1604C>T
ENST00000704444.1:c.1034C>T	ENSP00000515896.1:p.Pro345Leu
ENST00000704445.1:c.902C>T	ENSP00000515897.1:p.Pro301Leu
ENST00000704446.1:c.1048+660C>T	ENSP00000515898.1:n.1048+660C>T
ENST00000341893.8:c.1250C>T MANE Select	ENSP00000342510.3:p.Pro417Leu
ENST00000341893.7:c.1250C>T	ENSP00000342510.3:p.Pro417Leu
ENST00000467655.1:c.865C>T	ENSP00000418547.1:n.865C>T
ENST00000489172.5:n.1232C>T
ENST00000494050.5:c.1073C>T	ENSP00000418185.1:p.Pro358Leu
NM_001303401.1:c.1073C>T	NP_001290330.1:p.Pro358Leu
NM_024548.3:c.1250C>T	NP_078824.2:p.Pro417Leu
XM_006713743.2:c.1148C>T	XP_006713806.1:p.Pro383Leu
XM_011513125.1:c.1034C>T	XP_011511427.1:p.Pro345Leu
XM_011513126.1:c.1034C>T	XP_011511428.1:p.Pro345Leu
XM_011513127.1:c.902C>T	XP_011511429.1:p.Pro301Leu
XM_006713743.4:c.1148C>T	XP_006713806.1:p.Pro383Leu
XM_017007178.2:c.971C>T	XP_016862667.1:p.Pro324Leu
NM_024548.4:c.1250C>T MANE Select	NP_078824.2:p.Pro417Leu
NM_001303401.2:c.1073C>T	NP_001290330.1:p.Pro358Leu