Canonical Allele Identifier: CA353877805

Gene: CEP97

Linked Data

• dbSNP Id: rs1351024743
• gnomAD v3: 3-101758140-C-G
• gnomAD v4: 3-101758140-C-G
• MyVariant Identifiers: chr3:g.101476984C>G (hg19) ; chr3:g.101758140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758140C>G , CM000665.2:g.101758140C>G	GRCh38
NC_000003.11:g.101476984C>G , CM000665.1:g.101476984C>G	GRCh37
NC_000003.10:g.102959674C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1169C>G	ENSP00000419009.1:n.*1169C>G
ENST00000467655.2:c.*621C>G	ENSP00000418547.2:n.*621C>G
ENST00000704365.1:c.1534C>G	ENSP00000515873.1:p.Gln512Glu
ENST00000704366.1:c.1432C>G	ENSP00000515874.1:p.Gln478Glu
ENST00000704367.1:c.1255C>G	ENSP00000515875.1:p.Gln419Glu
ENST00000704368.1:n.2027C>G
ENST00000704369.1:c.1048C>G	ENSP00000515876.1:p.Gln350Glu
ENST00000704370.1:c.1528C>G	ENSP00000515877.1:p.Gln510Glu
ENST00000704372.1:n.1888C>G
ENST00000704444.1:c.1318C>G	ENSP00000515896.1:p.Gln440Glu
ENST00000704445.1:c.1186C>G	ENSP00000515897.1:p.Gln396Glu
ENST00000704446.1:c.1048+944C>G	ENSP00000515898.1:n.1048+944C>G
ENST00000341893.8:c.1534C>G MANE Select	ENSP00000342510.3:p.Gln512Glu
ENST00000341893.7:c.1534C>G	ENSP00000342510.3:p.Gln512Glu
ENST00000467655.1:c.1149C>G	ENSP00000418547.1:n.1149C>G
ENST00000489172.5:n.1516C>G
ENST00000494050.5:c.1357C>G	ENSP00000418185.1:p.Gln453Glu
NM_001303401.1:c.1357C>G	NP_001290330.1:p.Gln453Glu
NM_024548.3:c.1534C>G	NP_078824.2:p.Gln512Glu
XM_006713743.2:c.1432C>G	XP_006713806.1:p.Gln478Glu
XM_011513125.1:c.1318C>G	XP_011511427.1:p.Gln440Glu
XM_011513126.1:c.1318C>G	XP_011511428.1:p.Gln440Glu
XM_011513127.1:c.1186C>G	XP_011511429.1:p.Gln396Glu
XM_006713743.4:c.1432C>G	XP_006713806.1:p.Gln478Glu
XM_017007178.2:c.1255C>G	XP_016862667.1:p.Gln419Glu
NM_024548.4:c.1534C>G MANE Select	NP_078824.2:p.Gln512Glu
NM_001303401.2:c.1357C>G	NP_001290330.1:p.Gln453Glu