Canonical Allele Identifier: CA353877146

Gene: CEP97

Linked Data

• dbSNP Id: rs1181193077
• gnomAD v2: 3-101476702-A-G
• gnomAD v4: 3-101757858-A-G
• MyVariant Identifiers: chr3:g.101476702A>G (hg19) ; chr3:g.101757858A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757858A>G , CM000665.2:g.101757858A>G	GRCh38
NC_000003.11:g.101476702A>G , CM000665.1:g.101476702A>G	GRCh37
NC_000003.10:g.102959392A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*887A>G	ENSP00000419009.1:n.*887A>G
ENST00000467655.2:c.*339A>G	ENSP00000418547.2:n.*339A>G
ENST00000704365.1:c.1252A>G	ENSP00000515873.1:p.Thr418Ala
ENST00000704366.1:c.1150A>G	ENSP00000515874.1:p.Thr384Ala
ENST00000704367.1:c.973A>G	ENSP00000515875.1:p.Thr325Ala
ENST00000704368.1:n.1745A>G
ENST00000704369.1:c.766A>G	ENSP00000515876.1:p.Thr256Ala
ENST00000704370.1:c.1246A>G	ENSP00000515877.1:p.Thr416Ala
ENST00000704372.1:n.1606A>G
ENST00000704444.1:c.1036A>G	ENSP00000515896.1:p.Thr346Ala
ENST00000704445.1:c.904A>G	ENSP00000515897.1:p.Thr302Ala
ENST00000704446.1:c.1048+662A>G	ENSP00000515898.1:n.1048+662A>G
ENST00000341893.8:c.1252A>G MANE Select	ENSP00000342510.3:p.Thr418Ala
ENST00000341893.7:c.1252A>G	ENSP00000342510.3:p.Thr418Ala
ENST00000467655.1:c.867A>G	ENSP00000418547.1:n.867A>G
ENST00000489172.5:n.1234A>G
ENST00000494050.5:c.1075A>G	ENSP00000418185.1:p.Thr359Ala
NM_001303401.1:c.1075A>G	NP_001290330.1:p.Thr359Ala
NM_024548.3:c.1252A>G	NP_078824.2:p.Thr418Ala
XM_006713743.2:c.1150A>G	XP_006713806.1:p.Thr384Ala
XM_011513125.1:c.1036A>G	XP_011511427.1:p.Thr346Ala
XM_011513126.1:c.1036A>G	XP_011511428.1:p.Thr346Ala
XM_011513127.1:c.904A>G	XP_011511429.1:p.Thr302Ala
XM_006713743.4:c.1150A>G	XP_006713806.1:p.Thr384Ala
XM_017007178.2:c.973A>G	XP_016862667.1:p.Thr325Ala
NM_024548.4:c.1252A>G MANE Select	NP_078824.2:p.Thr418Ala
NM_001303401.2:c.1075A>G	NP_001290330.1:p.Thr359Ala