Canonical Allele Identifier: CA2522075

Gene: CEP97

Linked Data

• dbSNP Id: rs202101535
• ExAC: 3:101476587 A / G
• gnomAD v2: 3-101476587-A-G
• gnomAD v3: 3-101757743-A-G
• gnomAD v4: 3-101757743-A-G
• MyVariant Identifiers: chr3:g.101476587A>G (hg19) ; chr3:g.101757743A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757743A>G , CM000665.2:g.101757743A>G	GRCh38
NC_000003.11:g.101476587A>G , CM000665.1:g.101476587A>G	GRCh37
NC_000003.10:g.102959277A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*772A>G	ENSP00000419009.1:n.*772A>G
ENST00000467655.2:c.*224A>G	ENSP00000418547.2:n.*224A>G
ENST00000704365.1:c.1137A>G	ENSP00000515873.1:p.Arg379=
ENST00000704366.1:c.1035A>G	ENSP00000515874.1:p.Arg345=
ENST00000704367.1:c.926-68A>G	ENSP00000515875.1:n.926-68A>G
ENST00000704368.1:n.1630A>G
ENST00000704369.1:c.651A>G	ENSP00000515876.1:p.Arg217=
ENST00000704370.1:c.1131A>G	ENSP00000515877.1:p.Arg377=
ENST00000704372.1:n.1491A>G
ENST00000704444.1:c.921A>G	ENSP00000515896.1:p.Arg307=
ENST00000704445.1:c.789A>G	ENSP00000515897.1:p.Arg263=
ENST00000704446.1:c.1048+547A>G	ENSP00000515898.1:n.1048+547A>G
ENST00000341893.8:c.1137A>G MANE Select	ENSP00000342510.3:p.Arg379=
ENST00000341893.7:c.1137A>G	ENSP00000342510.3:p.Arg379=
ENST00000467655.1:c.752A>G	ENSP00000418547.1:n.752A>G
ENST00000489172.5:n.1119A>G
ENST00000494050.5:c.1028-68A>G	ENSP00000418185.1:n.1028-68A>G
NM_001303401.1:c.1028-68A>G	NP_001290330.1:n.1028-68A>G
NM_024548.3:c.1137A>G	NP_078824.2:p.Arg379=
XM_006713743.2:c.1035A>G	XP_006713806.1:p.Arg345=
XM_011513125.1:c.921A>G	XP_011511427.1:p.Arg307=
XM_011513126.1:c.921A>G	XP_011511428.1:p.Arg307=
XM_011513127.1:c.789A>G	XP_011511429.1:p.Arg263=
XM_006713743.4:c.1035A>G	XP_006713806.1:p.Arg345=
XM_017007178.2:c.926-68A>G	XP_016862667.1:n.926-68A>G
NM_024548.4:c.1137A>G MANE Select	NP_078824.2:p.Arg379=
NM_001303401.2:c.1028-68A>G	NP_001290330.1:n.1028-68A>G