Canonical Allele Identifier: CA353877095

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757844-C-T
• MyVariant Identifiers: chr3:g.101476688C>T (hg19) ; chr3:g.101757844C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757844C>T , CM000665.2:g.101757844C>T	GRCh38
NC_000003.11:g.101476688C>T , CM000665.1:g.101476688C>T	GRCh37
NC_000003.10:g.102959378C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*873C>T	ENSP00000419009.1:n.*873C>T
ENST00000467655.2:c.*325C>T	ENSP00000418547.2:n.*325C>T
ENST00000704365.1:c.1238C>T	ENSP00000515873.1:p.Ser413Phe
ENST00000704366.1:c.1136C>T	ENSP00000515874.1:p.Ser379Phe
ENST00000704367.1:c.959C>T	ENSP00000515875.1:p.Ser320Phe
ENST00000704368.1:n.1731C>T
ENST00000704369.1:c.752C>T	ENSP00000515876.1:p.Ser251Phe
ENST00000704370.1:c.1232C>T	ENSP00000515877.1:p.Ser411Phe
ENST00000704372.1:n.1592C>T
ENST00000704444.1:c.1022C>T	ENSP00000515896.1:p.Ser341Phe
ENST00000704445.1:c.890C>T	ENSP00000515897.1:p.Ser297Phe
ENST00000704446.1:c.1048+648C>T	ENSP00000515898.1:n.1048+648C>T
ENST00000341893.8:c.1238C>T MANE Select	ENSP00000342510.3:p.Ser413Phe
ENST00000341893.7:c.1238C>T	ENSP00000342510.3:p.Ser413Phe
ENST00000467655.1:c.853C>T	ENSP00000418547.1:n.853C>T
ENST00000489172.5:n.1220C>T
ENST00000494050.5:c.1061C>T	ENSP00000418185.1:p.Ser354Phe
NM_001303401.1:c.1061C>T	NP_001290330.1:p.Ser354Phe
NM_024548.3:c.1238C>T	NP_078824.2:p.Ser413Phe
XM_006713743.2:c.1136C>T	XP_006713806.1:p.Ser379Phe
XM_011513125.1:c.1022C>T	XP_011511427.1:p.Ser341Phe
XM_011513126.1:c.1022C>T	XP_011511428.1:p.Ser341Phe
XM_011513127.1:c.890C>T	XP_011511429.1:p.Ser297Phe
XM_006713743.4:c.1136C>T	XP_006713806.1:p.Ser379Phe
XM_017007178.2:c.959C>T	XP_016862667.1:p.Ser320Phe
NM_024548.4:c.1238C>T MANE Select	NP_078824.2:p.Ser413Phe
NM_001303401.2:c.1061C>T	NP_001290330.1:p.Ser354Phe