Canonical Allele Identifier: CA2522117

Gene: CEP97

Linked Data

• dbSNP Id: rs759943094
• ExAC: 3:101476822 G / C
• gnomAD v2: 3-101476822-G-C
• gnomAD v3: 3-101757978-G-C
• gnomAD v4: 3-101757978-G-C
• MyVariant Identifiers: chr3:g.101476822G>C (hg19) ; chr3:g.101757978G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757978G>C , CM000665.2:g.101757978G>C	GRCh38
NC_000003.11:g.101476822G>C , CM000665.1:g.101476822G>C	GRCh37
NC_000003.10:g.102959512G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1007G>C	ENSP00000419009.1:n.*1007G>C
ENST00000467655.2:c.*459G>C	ENSP00000418547.2:n.*459G>C
ENST00000704365.1:c.1372G>C	ENSP00000515873.1:p.Ala458Pro
ENST00000704366.1:c.1270G>C	ENSP00000515874.1:p.Ala424Pro
ENST00000704367.1:c.1093G>C	ENSP00000515875.1:p.Ala365Pro
ENST00000704368.1:n.1865G>C
ENST00000704369.1:c.886G>C	ENSP00000515876.1:p.Ala296Pro
ENST00000704370.1:c.1366G>C	ENSP00000515877.1:p.Ala456Pro
ENST00000704372.1:n.1726G>C
ENST00000704444.1:c.1156G>C	ENSP00000515896.1:p.Ala386Pro
ENST00000704445.1:c.1024G>C	ENSP00000515897.1:p.Ala342Pro
ENST00000704446.1:c.1048+782G>C	ENSP00000515898.1:n.1048+782G>C
ENST00000341893.8:c.1372G>C MANE Select	ENSP00000342510.3:p.Ala458Pro
ENST00000341893.7:c.1372G>C	ENSP00000342510.3:p.Ala458Pro
ENST00000467655.1:c.987G>C	ENSP00000418547.1:n.987G>C
ENST00000489172.5:n.1354G>C
ENST00000494050.5:c.1195G>C	ENSP00000418185.1:p.Ala399Pro
NM_001303401.1:c.1195G>C	NP_001290330.1:p.Ala399Pro
NM_024548.3:c.1372G>C	NP_078824.2:p.Ala458Pro
XM_006713743.2:c.1270G>C	XP_006713806.1:p.Ala424Pro
XM_011513125.1:c.1156G>C	XP_011511427.1:p.Ala386Pro
XM_011513126.1:c.1156G>C	XP_011511428.1:p.Ala386Pro
XM_011513127.1:c.1024G>C	XP_011511429.1:p.Ala342Pro
XM_006713743.4:c.1270G>C	XP_006713806.1:p.Ala424Pro
XM_017007178.2:c.1093G>C	XP_016862667.1:p.Ala365Pro
NM_024548.4:c.1372G>C MANE Select	NP_078824.2:p.Ala458Pro
NM_001303401.2:c.1195G>C	NP_001290330.1:p.Ala399Pro