Canonical Allele Identifier: CA353876768

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757788-A-C
• MyVariant Identifiers: chr3:g.101476632A>C (hg19) ; chr3:g.101757788A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757788A>C , CM000665.2:g.101757788A>C	GRCh38
NC_000003.11:g.101476632A>C , CM000665.1:g.101476632A>C	GRCh37
NC_000003.10:g.102959322A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*817A>C	ENSP00000419009.1:n.*817A>C
ENST00000467655.2:c.*269A>C	ENSP00000418547.2:n.*269A>C
ENST00000704365.1:c.1182A>C	ENSP00000515873.1:p.Leu394Phe
ENST00000704366.1:c.1080A>C	ENSP00000515874.1:p.Leu360Phe
ENST00000704367.1:c.926-23A>C	ENSP00000515875.1:n.926-23A>C
ENST00000704368.1:n.1675A>C
ENST00000704369.1:c.696A>C	ENSP00000515876.1:p.Leu232Phe
ENST00000704370.1:c.1176A>C	ENSP00000515877.1:p.Leu392Phe
ENST00000704372.1:n.1536A>C
ENST00000704444.1:c.966A>C	ENSP00000515896.1:p.Leu322Phe
ENST00000704445.1:c.834A>C	ENSP00000515897.1:p.Leu278Phe
ENST00000704446.1:c.1048+592A>C	ENSP00000515898.1:n.1048+592A>C
ENST00000341893.8:c.1182A>C MANE Select	ENSP00000342510.3:p.Leu394Phe
ENST00000341893.7:c.1182A>C	ENSP00000342510.3:p.Leu394Phe
ENST00000467655.1:c.797A>C	ENSP00000418547.1:n.797A>C
ENST00000489172.5:n.1164A>C
ENST00000494050.5:c.1028-23A>C	ENSP00000418185.1:n.1028-23A>C
NM_001303401.1:c.1028-23A>C	NP_001290330.1:n.1028-23A>C
NM_024548.3:c.1182A>C	NP_078824.2:p.Leu394Phe
XM_006713743.2:c.1080A>C	XP_006713806.1:p.Leu360Phe
XM_011513125.1:c.966A>C	XP_011511427.1:p.Leu322Phe
XM_011513126.1:c.966A>C	XP_011511428.1:p.Leu322Phe
XM_011513127.1:c.834A>C	XP_011511429.1:p.Leu278Phe
XM_006713743.4:c.1080A>C	XP_006713806.1:p.Leu360Phe
XM_017007178.2:c.926-23A>C	XP_016862667.1:n.926-23A>C
NM_024548.4:c.1182A>C MANE Select	NP_078824.2:p.Leu394Phe
NM_001303401.2:c.1028-23A>C	NP_001290330.1:n.1028-23A>C