Canonical Allele Identifier: CA2522123

Gene: CEP97

Linked Data

• ClinVar Variation Id: 2195406
• ClinVar RCV Id: RCV002628642 ; RCV004070720
• dbSNP Id: rs150586600
• ExAC: 3:101476853 G / T
• gnomAD v2: 3-101476853-G-T
• gnomAD v3: 3-101758009-G-T
• gnomAD v4: 3-101758009-G-T
• MyVariant Identifiers: chr3:g.101476853G>T (hg19) ; chr3:g.101758009G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758009G>T , CM000665.2:g.101758009G>T	GRCh38
NC_000003.11:g.101476853G>T , CM000665.1:g.101476853G>T	GRCh37
NC_000003.10:g.102959543G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1038G>T	ENSP00000419009.1:n.*1038G>T
ENST00000467655.2:c.*490G>T	ENSP00000418547.2:n.*490G>T
ENST00000704365.1:c.1403G>T	ENSP00000515873.1:p.Arg468Ile
ENST00000704366.1:c.1301G>T	ENSP00000515874.1:p.Arg434Ile
ENST00000704367.1:c.1124G>T	ENSP00000515875.1:p.Arg375Ile
ENST00000704368.1:n.1896G>T
ENST00000704369.1:c.917G>T	ENSP00000515876.1:p.Arg306Ile
ENST00000704370.1:c.1397G>T	ENSP00000515877.1:p.Arg466Ile
ENST00000704372.1:n.1757G>T
ENST00000704444.1:c.1187G>T	ENSP00000515896.1:p.Arg396Ile
ENST00000704445.1:c.1055G>T	ENSP00000515897.1:p.Arg352Ile
ENST00000704446.1:c.1048+813G>T	ENSP00000515898.1:n.1048+813G>T
ENST00000341893.8:c.1403G>T MANE Select	ENSP00000342510.3:p.Arg468Ile
ENST00000341893.7:c.1403G>T	ENSP00000342510.3:p.Arg468Ile
ENST00000467655.1:c.1018G>T	ENSP00000418547.1:n.1018G>T
ENST00000489172.5:n.1385G>T
ENST00000494050.5:c.1226G>T	ENSP00000418185.1:p.Arg409Ile
NM_001303401.1:c.1226G>T	NP_001290330.1:p.Arg409Ile
NM_024548.3:c.1403G>T	NP_078824.2:p.Arg468Ile
XM_006713743.2:c.1301G>T	XP_006713806.1:p.Arg434Ile
XM_011513125.1:c.1187G>T	XP_011511427.1:p.Arg396Ile
XM_011513126.1:c.1187G>T	XP_011511428.1:p.Arg396Ile
XM_011513127.1:c.1055G>T	XP_011511429.1:p.Arg352Ile
XM_006713743.4:c.1301G>T	XP_006713806.1:p.Arg434Ile
XM_017007178.2:c.1124G>T	XP_016862667.1:p.Arg375Ile
NM_024548.4:c.1403G>T MANE Select	NP_078824.2:p.Arg468Ile
NM_001303401.2:c.1226G>T	NP_001290330.1:p.Arg409Ile