Canonical Allele Identifier: CA2522087

Gene: CEP97

Linked Data

• dbSNP Id: rs369949529
• ExAC: 3:101476646 T / C
• gnomAD v2: 3-101476646-T-C
• gnomAD v3: 3-101757802-T-C
• gnomAD v4: 3-101757802-T-C
• MyVariant Identifiers: chr3:g.101476646T>C (hg19) ; chr3:g.101757802T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757802T>C , CM000665.2:g.101757802T>C	GRCh38
NC_000003.11:g.101476646T>C , CM000665.1:g.101476646T>C	GRCh37
NC_000003.10:g.102959336T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*831T>C	ENSP00000419009.1:n.*831T>C
ENST00000467655.2:c.*283T>C	ENSP00000418547.2:n.*283T>C
ENST00000704365.1:c.1196T>C	ENSP00000515873.1:p.Leu399Pro
ENST00000704366.1:c.1094T>C	ENSP00000515874.1:p.Leu365Pro
ENST00000704367.1:c.926-9T>C	ENSP00000515875.1:n.926-9T>C
ENST00000704368.1:n.1689T>C
ENST00000704369.1:c.710T>C	ENSP00000515876.1:p.Leu237Pro
ENST00000704370.1:c.1190T>C	ENSP00000515877.1:p.Leu397Pro
ENST00000704372.1:n.1550T>C
ENST00000704444.1:c.980T>C	ENSP00000515896.1:p.Leu327Pro
ENST00000704445.1:c.848T>C	ENSP00000515897.1:p.Leu283Pro
ENST00000704446.1:c.1048+606T>C	ENSP00000515898.1:n.1048+606T>C
ENST00000341893.8:c.1196T>C MANE Select	ENSP00000342510.3:p.Leu399Pro
ENST00000341893.7:c.1196T>C	ENSP00000342510.3:p.Leu399Pro
ENST00000467655.1:c.811T>C	ENSP00000418547.1:n.811T>C
ENST00000489172.5:n.1178T>C
ENST00000494050.5:c.1028-9T>C	ENSP00000418185.1:n.1028-9T>C
NM_001303401.1:c.1028-9T>C	NP_001290330.1:n.1028-9T>C
NM_024548.3:c.1196T>C	NP_078824.2:p.Leu399Pro
XM_006713743.2:c.1094T>C	XP_006713806.1:p.Leu365Pro
XM_011513125.1:c.980T>C	XP_011511427.1:p.Leu327Pro
XM_011513126.1:c.980T>C	XP_011511428.1:p.Leu327Pro
XM_011513127.1:c.848T>C	XP_011511429.1:p.Leu283Pro
XM_006713743.4:c.1094T>C	XP_006713806.1:p.Leu365Pro
XM_017007178.2:c.926-9T>C	XP_016862667.1:n.926-9T>C
NM_024548.4:c.1196T>C MANE Select	NP_078824.2:p.Leu399Pro
NM_001303401.2:c.1028-9T>C	NP_001290330.1:n.1028-9T>C