Canonical Allele Identifier: CA353877136

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757856-C-G
• MyVariant Identifiers: chr3:g.101476700C>G (hg19) ; chr3:g.101757856C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*885C>G	ENSP00000419009.1:n.*885C>G
ENST00000467655.2:c.*337C>G	ENSP00000418547.2:n.*337C>G
ENST00000704365.1:c.1250C>G	ENSP00000515873.1:p.Pro417Arg
ENST00000704366.1:c.1148C>G	ENSP00000515874.1:p.Pro383Arg
ENST00000704367.1:c.971C>G	ENSP00000515875.1:p.Pro324Arg
ENST00000704368.1:n.1743C>G
ENST00000704369.1:c.764C>G	ENSP00000515876.1:p.Pro255Arg
ENST00000704370.1:c.1244C>G	ENSP00000515877.1:p.Pro415Arg
ENST00000704372.1:n.1604C>G
ENST00000704444.1:c.1034C>G	ENSP00000515896.1:p.Pro345Arg
ENST00000704445.1:c.902C>G	ENSP00000515897.1:p.Pro301Arg
ENST00000704446.1:c.1048+660C>G	ENSP00000515898.1:n.1048+660C>G
ENST00000341893.8:c.1250C>G MANE Select	ENSP00000342510.3:p.Pro417Arg
ENST00000341893.7:c.1250C>G	ENSP00000342510.3:p.Pro417Arg
ENST00000467655.1:c.865C>G	ENSP00000418547.1:n.865C>G
ENST00000489172.5:n.1232C>G
ENST00000494050.5:c.1073C>G	ENSP00000418185.1:p.Pro358Arg
NM_001303401.1:c.1073C>G	NP_001290330.1:p.Pro358Arg
NM_024548.3:c.1250C>G	NP_078824.2:p.Pro417Arg
XM_006713743.2:c.1148C>G	XP_006713806.1:p.Pro383Arg
XM_011513125.1:c.1034C>G	XP_011511427.1:p.Pro345Arg
XM_011513126.1:c.1034C>G	XP_011511428.1:p.Pro345Arg
XM_011513127.1:c.902C>G	XP_011511429.1:p.Pro301Arg
XM_006713743.4:c.1148C>G	XP_006713806.1:p.Pro383Arg
XM_017007178.2:c.971C>G	XP_016862667.1:p.Pro324Arg
NM_024548.4:c.1250C>G MANE Select	NP_078824.2:p.Pro417Arg
NM_001303401.2:c.1073C>G	NP_001290330.1:p.Pro358Arg