Canonical Allele Identifier: CA353876373

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757733-G-T
• MyVariant Identifiers: chr3:g.101476577G>T (hg19) ; chr3:g.101757733G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757733G>T , CM000665.2:g.101757733G>T	GRCh38
NC_000003.11:g.101476577G>T , CM000665.1:g.101476577G>T	GRCh37
NC_000003.10:g.102959267G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*762G>T	ENSP00000419009.1:n.*762G>T
ENST00000467655.2:c.*214G>T	ENSP00000418547.2:n.*214G>T
ENST00000704365.1:c.1127G>T	ENSP00000515873.1:p.Arg376Ile
ENST00000704366.1:c.1025G>T	ENSP00000515874.1:p.Arg342Ile
ENST00000704367.1:c.926-78G>T	ENSP00000515875.1:n.926-78G>T
ENST00000704368.1:n.1620G>T
ENST00000704369.1:c.641G>T	ENSP00000515876.1:p.Arg214Ile
ENST00000704370.1:c.1121G>T	ENSP00000515877.1:p.Arg374Ile
ENST00000704372.1:n.1481G>T
ENST00000704444.1:c.911G>T	ENSP00000515896.1:p.Arg304Ile
ENST00000704445.1:c.779G>T	ENSP00000515897.1:p.Arg260Ile
ENST00000704446.1:c.1048+537G>T	ENSP00000515898.1:n.1048+537G>T
ENST00000341893.8:c.1127G>T MANE Select	ENSP00000342510.3:p.Arg376Ile
ENST00000341893.7:c.1127G>T	ENSP00000342510.3:p.Arg376Ile
ENST00000467655.1:c.742G>T	ENSP00000418547.1:n.742G>T
ENST00000489172.5:n.1109G>T
ENST00000494050.5:c.1028-78G>T	ENSP00000418185.1:n.1028-78G>T
NM_001303401.1:c.1028-78G>T	NP_001290330.1:n.1028-78G>T
NM_024548.3:c.1127G>T	NP_078824.2:p.Arg376Ile
XM_006713743.2:c.1025G>T	XP_006713806.1:p.Arg342Ile
XM_011513125.1:c.911G>T	XP_011511427.1:p.Arg304Ile
XM_011513126.1:c.911G>T	XP_011511428.1:p.Arg304Ile
XM_011513127.1:c.779G>T	XP_011511429.1:p.Arg260Ile
XM_006713743.4:c.1025G>T	XP_006713806.1:p.Arg342Ile
XM_017007178.2:c.926-78G>T	XP_016862667.1:n.926-78G>T
NM_024548.4:c.1127G>T MANE Select	NP_078824.2:p.Arg376Ile
NM_001303401.2:c.1028-78G>T	NP_001290330.1:n.1028-78G>T