Canonical Allele Identifier: CA2522098

Gene: CEP97

Linked Data

• dbSNP Id: rs759722862
• ExAC: 3:101476695 A / G
• gnomAD v2: 3-101476695-A-G
• gnomAD v4: 3-101757851-A-G
• MyVariant Identifiers: chr3:g.101476695A>G (hg19) ; chr3:g.101757851A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757851A>G , CM000665.2:g.101757851A>G	GRCh38
NC_000003.11:g.101476695A>G , CM000665.1:g.101476695A>G	GRCh37
NC_000003.10:g.102959385A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*880A>G	ENSP00000419009.1:n.*880A>G
ENST00000467655.2:c.*332A>G	ENSP00000418547.2:n.*332A>G
ENST00000704365.1:c.1245A>G	ENSP00000515873.1:p.Leu415=
ENST00000704366.1:c.1143A>G	ENSP00000515874.1:p.Leu381=
ENST00000704367.1:c.966A>G	ENSP00000515875.1:p.Leu322=
ENST00000704368.1:n.1738A>G
ENST00000704369.1:c.759A>G	ENSP00000515876.1:p.Leu253=
ENST00000704370.1:c.1239A>G	ENSP00000515877.1:p.Leu413=
ENST00000704372.1:n.1599A>G
ENST00000704444.1:c.1029A>G	ENSP00000515896.1:p.Leu343=
ENST00000704445.1:c.897A>G	ENSP00000515897.1:p.Leu299=
ENST00000704446.1:c.1048+655A>G	ENSP00000515898.1:n.1048+655A>G
ENST00000341893.8:c.1245A>G MANE Select	ENSP00000342510.3:p.Leu415=
ENST00000341893.7:c.1245A>G	ENSP00000342510.3:p.Leu415=
ENST00000467655.1:c.860A>G	ENSP00000418547.1:n.860A>G
ENST00000489172.5:n.1227A>G
ENST00000494050.5:c.1068A>G	ENSP00000418185.1:p.Leu356=
NM_001303401.1:c.1068A>G	NP_001290330.1:p.Leu356=
NM_024548.3:c.1245A>G	NP_078824.2:p.Leu415=
XM_006713743.2:c.1143A>G	XP_006713806.1:p.Leu381=
XM_011513125.1:c.1029A>G	XP_011511427.1:p.Leu343=
XM_011513126.1:c.1029A>G	XP_011511428.1:p.Leu343=
XM_011513127.1:c.897A>G	XP_011511429.1:p.Leu299=
XM_006713743.4:c.1143A>G	XP_006713806.1:p.Leu381=
XM_017007178.2:c.966A>G	XP_016862667.1:p.Leu322=
NM_024548.4:c.1245A>G MANE Select	NP_078824.2:p.Leu415=
NM_001303401.2:c.1068A>G	NP_001290330.1:p.Leu356=