Canonical Allele Identifier: CA79769031

Gene: CEP97

Linked Data

• dbSNP Id: rs922349539
• gnomAD v3: 3-101758138-A-C
• gnomAD v4: 3-101758138-A-C
• MyVariant Identifiers: chr3:g.101476982A>C (hg19) ; chr3:g.101758138A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758138A>C , CM000665.2:g.101758138A>C	GRCh38
NC_000003.11:g.101476982A>C , CM000665.1:g.101476982A>C	GRCh37
NC_000003.10:g.102959672A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1167A>C	ENSP00000419009.1:n.*1167A>C
ENST00000467655.2:c.*619A>C	ENSP00000418547.2:n.*619A>C
ENST00000704365.1:c.1532A>C	ENSP00000515873.1:p.Lys511Thr
ENST00000704366.1:c.1430A>C	ENSP00000515874.1:p.Lys477Thr
ENST00000704367.1:c.1253A>C	ENSP00000515875.1:p.Lys418Thr
ENST00000704368.1:n.2025A>C
ENST00000704369.1:c.1046A>C	ENSP00000515876.1:p.Lys349Thr
ENST00000704370.1:c.1526A>C	ENSP00000515877.1:p.Lys509Thr
ENST00000704372.1:n.1886A>C
ENST00000704444.1:c.1316A>C	ENSP00000515896.1:p.Lys439Thr
ENST00000704445.1:c.1184A>C	ENSP00000515897.1:p.Lys395Thr
ENST00000704446.1:c.1048+942A>C	ENSP00000515898.1:n.1048+942A>C
ENST00000341893.8:c.1532A>C MANE Select	ENSP00000342510.3:p.Lys511Thr
ENST00000341893.7:c.1532A>C	ENSP00000342510.3:p.Lys511Thr
ENST00000467655.1:c.1147A>C	ENSP00000418547.1:n.1147A>C
ENST00000489172.5:n.1514A>C
ENST00000494050.5:c.1355A>C	ENSP00000418185.1:p.Lys452Thr
NM_001303401.1:c.1355A>C	NP_001290330.1:p.Lys452Thr
NM_024548.3:c.1532A>C	NP_078824.2:p.Lys511Thr
XM_006713743.2:c.1430A>C	XP_006713806.1:p.Lys477Thr
XM_011513125.1:c.1316A>C	XP_011511427.1:p.Lys439Thr
XM_011513126.1:c.1316A>C	XP_011511428.1:p.Lys439Thr
XM_011513127.1:c.1184A>C	XP_011511429.1:p.Lys395Thr
XM_006713743.4:c.1430A>C	XP_006713806.1:p.Lys477Thr
XM_017007178.2:c.1253A>C	XP_016862667.1:p.Lys418Thr
NM_024548.4:c.1532A>C MANE Select	NP_078824.2:p.Lys511Thr
NM_001303401.2:c.1355A>C	NP_001290330.1:p.Lys452Thr