Canonical Allele Identifier: CA2522065

Gene: CEP97

Linked Data

• dbSNP Id: rs770867782
• ExAC: 3:101476535 T / C
• gnomAD v2: 3-101476535-T-C
• gnomAD v4: 3-101757691-T-C
• MyVariant Identifiers: chr3:g.101476535T>C (hg19) ; chr3:g.101757691T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757691T>C , CM000665.2:g.101757691T>C	GRCh38
NC_000003.11:g.101476535T>C , CM000665.1:g.101476535T>C	GRCh37
NC_000003.10:g.102959225T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*720T>C	ENSP00000419009.1:n.*720T>C
ENST00000467655.2:c.*172T>C	ENSP00000418547.2:n.*172T>C
ENST00000704365.1:c.1085T>C	ENSP00000515873.1:p.Phe362Ser
ENST00000704366.1:c.983T>C	ENSP00000515874.1:p.Phe328Ser
ENST00000704367.1:c.926-120T>C	ENSP00000515875.1:n.926-120T>C
ENST00000704368.1:n.1578T>C
ENST00000704369.1:c.599T>C	ENSP00000515876.1:p.Phe200Ser
ENST00000704370.1:c.1079T>C	ENSP00000515877.1:p.Phe360Ser
ENST00000704372.1:n.1439T>C
ENST00000704444.1:c.869T>C	ENSP00000515896.1:p.Phe290Ser
ENST00000704445.1:c.737T>C	ENSP00000515897.1:p.Phe246Ser
ENST00000704446.1:c.1048+495T>C	ENSP00000515898.1:n.1048+495T>C
ENST00000341893.8:c.1085T>C MANE Select	ENSP00000342510.3:p.Phe362Ser
ENST00000341893.7:c.1085T>C	ENSP00000342510.3:p.Phe362Ser
ENST00000467655.1:c.700T>C	ENSP00000418547.1:n.700T>C
ENST00000489172.5:n.1067T>C
ENST00000494050.5:c.1028-120T>C	ENSP00000418185.1:n.1028-120T>C
NM_001303401.1:c.1028-120T>C	NP_001290330.1:n.1028-120T>C
NM_024548.3:c.1085T>C	NP_078824.2:p.Phe362Ser
XM_006713743.2:c.983T>C	XP_006713806.1:p.Phe328Ser
XM_011513125.1:c.869T>C	XP_011511427.1:p.Phe290Ser
XM_011513126.1:c.869T>C	XP_011511428.1:p.Phe290Ser
XM_011513127.1:c.737T>C	XP_011511429.1:p.Phe246Ser
XM_006713743.4:c.983T>C	XP_006713806.1:p.Phe328Ser
XM_017007178.2:c.926-120T>C	XP_016862667.1:n.926-120T>C
NM_024548.4:c.1085T>C MANE Select	NP_078824.2:p.Phe362Ser
NM_001303401.2:c.1028-120T>C	NP_001290330.1:n.1028-120T>C