Canonical Allele Identifier: CA353877820

Gene: CEP97

Linked Data

• gnomAD v4: 3-101758146-G-T
• MyVariant Identifiers: chr3:g.101476990G>T (hg19) ; chr3:g.101758146G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758146G>T , CM000665.2:g.101758146G>T	GRCh38
NC_000003.11:g.101476990G>T , CM000665.1:g.101476990G>T	GRCh37
NC_000003.10:g.102959680G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1175G>T	ENSP00000419009.1:n.*1175G>T
ENST00000467655.2:c.*627G>T	ENSP00000418547.2:n.*627G>T
ENST00000704365.1:c.1540G>T	ENSP00000515873.1:p.Asp514Tyr
ENST00000704366.1:c.1438G>T	ENSP00000515874.1:p.Asp480Tyr
ENST00000704367.1:c.1261G>T	ENSP00000515875.1:p.Asp421Tyr
ENST00000704368.1:n.2033G>T
ENST00000704369.1:c.1054G>T	ENSP00000515876.1:p.Asp352Tyr
ENST00000704370.1:c.1534G>T	ENSP00000515877.1:p.Asp512Tyr
ENST00000704372.1:n.1894G>T
ENST00000704444.1:c.1324G>T	ENSP00000515896.1:p.Asp442Tyr
ENST00000704445.1:c.1192G>T	ENSP00000515897.1:p.Asp398Tyr
ENST00000704446.1:c.1048+950G>T	ENSP00000515898.1:n.1048+950G>T
ENST00000341893.8:c.1540G>T MANE Select	ENSP00000342510.3:p.Asp514Tyr
ENST00000341893.7:c.1540G>T	ENSP00000342510.3:p.Asp514Tyr
ENST00000467655.1:c.1155G>T	ENSP00000418547.1:n.1155G>T
ENST00000489172.5:n.1522G>T
ENST00000494050.5:c.1363G>T	ENSP00000418185.1:p.Asp455Tyr
NM_001303401.1:c.1363G>T	NP_001290330.1:p.Asp455Tyr
NM_024548.3:c.1540G>T	NP_078824.2:p.Asp514Tyr
XM_006713743.2:c.1438G>T	XP_006713806.1:p.Asp480Tyr
XM_011513125.1:c.1324G>T	XP_011511427.1:p.Asp442Tyr
XM_011513126.1:c.1324G>T	XP_011511428.1:p.Asp442Tyr
XM_011513127.1:c.1192G>T	XP_011511429.1:p.Asp398Tyr
XM_006713743.4:c.1438G>T	XP_006713806.1:p.Asp480Tyr
XM_017007178.2:c.1261G>T	XP_016862667.1:p.Asp421Tyr
NM_024548.4:c.1540G>T MANE Select	NP_078824.2:p.Asp514Tyr
NM_001303401.2:c.1363G>T	NP_001290330.1:p.Asp455Tyr