Canonical Allele Identifier: CA353882129

Gene: CEP97

Linked Data

• ClinVar Variation Id: 3143108
• ClinVar RCV Id: RCV004428477
• MyVariant Identifiers: chr3:g.101484241G>T (hg19) ; chr3:g.101765397G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101765397G>T , CM000665.2:g.101765397G>T	GRCh38
NC_000003.11:g.101484241G>T , CM000665.1:g.101484241G>T	GRCh37
NC_000003.10:g.102966931G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*2079G>T	ENSP00000419009.1:n.*2079G>T
ENST00000704365.1:c.2522G>T	ENSP00000515873.1:p.Gly841Val
ENST00000704366.1:c.2342G>T	ENSP00000515874.1:p.Gly781Val
ENST00000704367.1:c.2165G>T	ENSP00000515875.1:p.Gly722Val
ENST00000704368.1:n.2937G>T
ENST00000704369.1:c.1958G>T	ENSP00000515876.1:p.Gly653Val
ENST00000704370.1:c.2438G>T	ENSP00000515877.1:p.Gly813Val
ENST00000704372.1:n.2798G>T
ENST00000704444.1:c.2228G>T	ENSP00000515896.1:p.Gly743Val
ENST00000704445.1:c.2096G>T	ENSP00000515897.1:p.Gly699Val
ENST00000704446.1:c.1049-1052G>T	ENSP00000515898.1:n.1049-1052G>T
ENST00000341893.8:c.2444G>T MANE Select	ENSP00000342510.3:p.Gly815Val
ENST00000341893.7:c.2444G>T	ENSP00000342510.3:p.Gly815Val
ENST00000494050.5:c.2267G>T	ENSP00000418185.1:p.Gly756Val
NM_001303401.1:c.2267G>T	NP_001290330.1:p.Gly756Val
NM_024548.3:c.2444G>T	NP_078824.2:p.Gly815Val
XM_006713743.2:c.2342G>T	XP_006713806.1:p.Gly781Val
XM_011513125.1:c.2228G>T	XP_011511427.1:p.Gly743Val
XM_011513126.1:c.2228G>T	XP_011511428.1:p.Gly743Val
XM_011513127.1:c.2096G>T	XP_011511429.1:p.Gly699Val
XM_006713743.4:c.2342G>T	XP_006713806.1:p.Gly781Val
XM_017007178.2:c.2165G>T	XP_016862667.1:p.Gly722Val
NM_024548.4:c.2444G>T MANE Select	NP_078824.2:p.Gly815Val
NM_001303401.2:c.2267G>T	NP_001290330.1:p.Gly756Val