Canonical Allele Identifier: CA2522091

Gene: CEP97

Linked Data

• dbSNP Id: rs773789109
• ExAC: 3:101476660 A / C
• gnomAD v2: 3-101476660-A-C
• MyVariant Identifiers: chr3:g.101476660A>C (hg19) ; chr3:g.101476660_101476661delinsCC (hg19) ; chr3:g.101757816A>C (hg38) ; chr3:g.101757816_101757817delinsCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757816A>C , CM000665.2:g.101757816A>C	GRCh38
NC_000003.11:g.101476660A>C , CM000665.1:g.101476660A>C	GRCh37
NC_000003.10:g.102959350A>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*845A>C	ENSP00000419009.1:n.*845A>C
ENST00000467655.2:c.*297A>C	ENSP00000418547.2:n.*297A>C
ENST00000704365.1:c.1210A>C	ENSP00000515873.1:p.Thr404Pro
ENST00000704366.1:c.1108A>C	ENSP00000515874.1:p.Thr370Pro
ENST00000704367.1:c.931A>C	ENSP00000515875.1:p.Thr311Pro
ENST00000704368.1:n.1703A>C
ENST00000704369.1:c.724A>C	ENSP00000515876.1:p.Thr242Pro
ENST00000704370.1:c.1204A>C	ENSP00000515877.1:p.Thr402Pro
ENST00000704372.1:n.1564A>C
ENST00000704444.1:c.994A>C	ENSP00000515896.1:p.Thr332Pro
ENST00000704445.1:c.862A>C	ENSP00000515897.1:p.Thr288Pro
ENST00000704446.1:c.1048+620A>C	ENSP00000515898.1:n.1048+620A>C
ENST00000341893.8:c.1210A>C MANE Select	ENSP00000342510.3:p.Thr404Pro
ENST00000341893.7:c.1210A>C	ENSP00000342510.3:p.Thr404Pro
ENST00000467655.1:c.825A>C	ENSP00000418547.1:n.825A>C
ENST00000489172.5:n.1192A>C
ENST00000494050.5:c.1033A>C	ENSP00000418185.1:p.Thr345Pro
NM_001303401.1:c.1033A>C	NP_001290330.1:p.Thr345Pro
NM_024548.3:c.1210A>C	NP_078824.2:p.Thr404Pro
XM_006713743.2:c.1108A>C	XP_006713806.1:p.Thr370Pro
XM_011513125.1:c.994A>C	XP_011511427.1:p.Thr332Pro
XM_011513126.1:c.994A>C	XP_011511428.1:p.Thr332Pro
XM_011513127.1:c.862A>C	XP_011511429.1:p.Thr288Pro
XM_006713743.4:c.1108A>C	XP_006713806.1:p.Thr370Pro
XM_017007178.2:c.931A>C	XP_016862667.1:p.Thr311Pro
NM_024548.4:c.1210A>C MANE Select	NP_078824.2:p.Thr404Pro
NM_001303401.2:c.1033A>C	NP_001290330.1:p.Thr345Pro