Canonical Allele Identifier: CA79769027

Gene: CEP97

Linked Data

• dbSNP Id: rs976897081
• MyVariant Identifiers: chr3:g.101476978C>T (hg19) ; chr3:g.101758134C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758134C>T , CM000665.2:g.101758134C>T	GRCh38
NC_000003.11:g.101476978C>T , CM000665.1:g.101476978C>T	GRCh37
NC_000003.10:g.102959668C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1163C>T	ENSP00000419009.1:n.*1163C>T
ENST00000467655.2:c.*615C>T	ENSP00000418547.2:n.*615C>T
ENST00000704365.1:c.1528C>T	ENSP00000515873.1:p.Gln510Ter
ENST00000704366.1:c.1426C>T	ENSP00000515874.1:p.Gln476Ter
ENST00000704367.1:c.1249C>T	ENSP00000515875.1:p.Gln417Ter
ENST00000704368.1:n.2021C>T
ENST00000704369.1:c.1042C>T	ENSP00000515876.1:p.Gln348Ter
ENST00000704370.1:c.1522C>T	ENSP00000515877.1:p.Gln508Ter
ENST00000704372.1:n.1882C>T
ENST00000704444.1:c.1312C>T	ENSP00000515896.1:p.Gln438Ter
ENST00000704445.1:c.1180C>T	ENSP00000515897.1:p.Gln394Ter
ENST00000704446.1:c.1048+938C>T	ENSP00000515898.1:n.1048+938C>T
ENST00000341893.8:c.1528C>T MANE Select	ENSP00000342510.3:p.Gln510Ter
ENST00000341893.7:c.1528C>T	ENSP00000342510.3:p.Gln510Ter
ENST00000467655.1:c.1143C>T	ENSP00000418547.1:n.1143C>T
ENST00000489172.5:n.1510C>T
ENST00000494050.5:c.1351C>T	ENSP00000418185.1:p.Gln451Ter
NM_001303401.1:c.1351C>T	NP_001290330.1:p.Gln451Ter
NM_024548.3:c.1528C>T	NP_078824.2:p.Gln510Ter
XM_006713743.2:c.1426C>T	XP_006713806.1:p.Gln476Ter
XM_011513125.1:c.1312C>T	XP_011511427.1:p.Gln438Ter
XM_011513126.1:c.1312C>T	XP_011511428.1:p.Gln438Ter
XM_011513127.1:c.1180C>T	XP_011511429.1:p.Gln394Ter
XM_006713743.4:c.1426C>T	XP_006713806.1:p.Gln476Ter
XM_017007178.2:c.1249C>T	XP_016862667.1:p.Gln417Ter
NM_024548.4:c.1528C>T MANE Select	NP_078824.2:p.Gln510Ter
NM_001303401.2:c.1351C>T	NP_001290330.1:p.Gln451Ter