Canonical Allele Identifier: CA353876955

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757820-T-C
• MyVariant Identifiers: chr3:g.101476664T>C (hg19) ; chr3:g.101757820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757820T>C , CM000665.2:g.101757820T>C	GRCh38
NC_000003.11:g.101476664T>C , CM000665.1:g.101476664T>C	GRCh37
NC_000003.10:g.102959354T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*849T>C	ENSP00000419009.1:n.*849T>C
ENST00000467655.2:c.*301T>C	ENSP00000418547.2:n.*301T>C
ENST00000704365.1:c.1214T>C	ENSP00000515873.1:p.Phe405Ser
ENST00000704366.1:c.1112T>C	ENSP00000515874.1:p.Phe371Ser
ENST00000704367.1:c.935T>C	ENSP00000515875.1:p.Phe312Ser
ENST00000704368.1:n.1707T>C
ENST00000704369.1:c.728T>C	ENSP00000515876.1:p.Phe243Ser
ENST00000704370.1:c.1208T>C	ENSP00000515877.1:p.Phe403Ser
ENST00000704372.1:n.1568T>C
ENST00000704444.1:c.998T>C	ENSP00000515896.1:p.Phe333Ser
ENST00000704445.1:c.866T>C	ENSP00000515897.1:p.Phe289Ser
ENST00000704446.1:c.1048+624T>C	ENSP00000515898.1:n.1048+624T>C
ENST00000341893.8:c.1214T>C MANE Select	ENSP00000342510.3:p.Phe405Ser
ENST00000341893.7:c.1214T>C	ENSP00000342510.3:p.Phe405Ser
ENST00000467655.1:c.829T>C	ENSP00000418547.1:n.829T>C
ENST00000489172.5:n.1196T>C
ENST00000494050.5:c.1037T>C	ENSP00000418185.1:p.Phe346Ser
NM_001303401.1:c.1037T>C	NP_001290330.1:p.Phe346Ser
NM_024548.3:c.1214T>C	NP_078824.2:p.Phe405Ser
XM_006713743.2:c.1112T>C	XP_006713806.1:p.Phe371Ser
XM_011513125.1:c.998T>C	XP_011511427.1:p.Phe333Ser
XM_011513126.1:c.998T>C	XP_011511428.1:p.Phe333Ser
XM_011513127.1:c.866T>C	XP_011511429.1:p.Phe289Ser
XM_006713743.4:c.1112T>C	XP_006713806.1:p.Phe371Ser
XM_017007178.2:c.935T>C	XP_016862667.1:p.Phe312Ser
NM_024548.4:c.1214T>C MANE Select	NP_078824.2:p.Phe405Ser
NM_001303401.2:c.1037T>C	NP_001290330.1:p.Phe346Ser