Canonical Allele Identifier: CA2522080

Gene: CEP97

Linked Data

• dbSNP Id: rs755184343
• ExAC: 3:101476626 C / T
• gnomAD v2: 3-101476626-C-T
• gnomAD v4: 3-101757782-C-T
• MyVariant Identifiers: chr3:g.101476626C>T (hg19) ; chr3:g.101757782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757782C>T , CM000665.2:g.101757782C>T	GRCh38
NC_000003.11:g.101476626C>T , CM000665.1:g.101476626C>T	GRCh37
NC_000003.10:g.102959316C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*811C>T	ENSP00000419009.1:n.*811C>T
ENST00000467655.2:c.*263C>T	ENSP00000418547.2:n.*263C>T
ENST00000704365.1:c.1176C>T	ENSP00000515873.1:p.Asp392=
ENST00000704366.1:c.1074C>T	ENSP00000515874.1:p.Asp358=
ENST00000704367.1:c.926-29C>T	ENSP00000515875.1:n.926-29C>T
ENST00000704368.1:n.1669C>T
ENST00000704369.1:c.690C>T	ENSP00000515876.1:p.Asp230=
ENST00000704370.1:c.1170C>T	ENSP00000515877.1:p.Asp390=
ENST00000704372.1:n.1530C>T
ENST00000704444.1:c.960C>T	ENSP00000515896.1:p.Asp320=
ENST00000704445.1:c.828C>T	ENSP00000515897.1:p.Asp276=
ENST00000704446.1:c.1048+586C>T	ENSP00000515898.1:n.1048+586C>T
ENST00000341893.8:c.1176C>T MANE Select	ENSP00000342510.3:p.Asp392=
ENST00000341893.7:c.1176C>T	ENSP00000342510.3:p.Asp392=
ENST00000467655.1:c.791C>T	ENSP00000418547.1:n.791C>T
ENST00000489172.5:n.1158C>T
ENST00000494050.5:c.1028-29C>T	ENSP00000418185.1:n.1028-29C>T
NM_001303401.1:c.1028-29C>T	NP_001290330.1:n.1028-29C>T
NM_024548.3:c.1176C>T	NP_078824.2:p.Asp392=
XM_006713743.2:c.1074C>T	XP_006713806.1:p.Asp358=
XM_011513125.1:c.960C>T	XP_011511427.1:p.Asp320=
XM_011513126.1:c.960C>T	XP_011511428.1:p.Asp320=
XM_011513127.1:c.828C>T	XP_011511429.1:p.Asp276=
XM_006713743.4:c.1074C>T	XP_006713806.1:p.Asp358=
XM_017007178.2:c.926-29C>T	XP_016862667.1:n.926-29C>T
NM_024548.4:c.1176C>T MANE Select	NP_078824.2:p.Asp392=
NM_001303401.2:c.1028-29C>T	NP_001290330.1:n.1028-29C>T