Canonical Allele Identifier: CA2522093

Gene: CEP97

Linked Data

• dbSNP Id: rs771416730
• ExAC: 3:101476671 A / G
• gnomAD v2: 3-101476671-A-G
• gnomAD v3: 3-101757827-A-G
• gnomAD v4: 3-101757827-A-G
• MyVariant Identifiers: chr3:g.101476671A>G (hg19) ; chr3:g.101757827A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757827A>G , CM000665.2:g.101757827A>G	GRCh38
NC_000003.11:g.101476671A>G , CM000665.1:g.101476671A>G	GRCh37
NC_000003.10:g.102959361A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*856A>G	ENSP00000419009.1:n.*856A>G
ENST00000467655.2:c.*308A>G	ENSP00000418547.2:n.*308A>G
ENST00000704365.1:c.1221A>G	ENSP00000515873.1:p.Pro407=
ENST00000704366.1:c.1119A>G	ENSP00000515874.1:p.Pro373=
ENST00000704367.1:c.942A>G	ENSP00000515875.1:p.Pro314=
ENST00000704368.1:n.1714A>G
ENST00000704369.1:c.735A>G	ENSP00000515876.1:p.Pro245=
ENST00000704370.1:c.1215A>G	ENSP00000515877.1:p.Pro405=
ENST00000704372.1:n.1575A>G
ENST00000704444.1:c.1005A>G	ENSP00000515896.1:p.Pro335=
ENST00000704445.1:c.873A>G	ENSP00000515897.1:p.Pro291=
ENST00000704446.1:c.1048+631A>G	ENSP00000515898.1:n.1048+631A>G
ENST00000341893.8:c.1221A>G MANE Select	ENSP00000342510.3:p.Pro407=
ENST00000341893.7:c.1221A>G	ENSP00000342510.3:p.Pro407=
ENST00000467655.1:c.836A>G	ENSP00000418547.1:n.836A>G
ENST00000489172.5:n.1203A>G
ENST00000494050.5:c.1044A>G	ENSP00000418185.1:p.Pro348=
NM_001303401.1:c.1044A>G	NP_001290330.1:p.Pro348=
NM_024548.3:c.1221A>G	NP_078824.2:p.Pro407=
XM_006713743.2:c.1119A>G	XP_006713806.1:p.Pro373=
XM_011513125.1:c.1005A>G	XP_011511427.1:p.Pro335=
XM_011513126.1:c.1005A>G	XP_011511428.1:p.Pro335=
XM_011513127.1:c.873A>G	XP_011511429.1:p.Pro291=
XM_006713743.4:c.1119A>G	XP_006713806.1:p.Pro373=
XM_017007178.2:c.942A>G	XP_016862667.1:p.Pro314=
NM_024548.4:c.1221A>G MANE Select	NP_078824.2:p.Pro407=
NM_001303401.2:c.1044A>G	NP_001290330.1:p.Pro348=