Canonical Allele Identifier: CA353877155

Gene: CEP97

Linked Data

• gnomAD v4: 3-101757859-C-T
• MyVariant Identifiers: chr3:g.101476703C>T (hg19) ; chr3:g.101757859C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757859C>T , CM000665.2:g.101757859C>T	GRCh38
NC_000003.11:g.101476703C>T , CM000665.1:g.101476703C>T	GRCh37
NC_000003.10:g.102959393C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*888C>T	ENSP00000419009.1:n.*888C>T
ENST00000467655.2:c.*340C>T	ENSP00000418547.2:n.*340C>T
ENST00000704365.1:c.1253C>T	ENSP00000515873.1:p.Thr418Ile
ENST00000704366.1:c.1151C>T	ENSP00000515874.1:p.Thr384Ile
ENST00000704367.1:c.974C>T	ENSP00000515875.1:p.Thr325Ile
ENST00000704368.1:n.1746C>T
ENST00000704369.1:c.767C>T	ENSP00000515876.1:p.Thr256Ile
ENST00000704370.1:c.1247C>T	ENSP00000515877.1:p.Thr416Ile
ENST00000704372.1:n.1607C>T
ENST00000704444.1:c.1037C>T	ENSP00000515896.1:p.Thr346Ile
ENST00000704445.1:c.905C>T	ENSP00000515897.1:p.Thr302Ile
ENST00000704446.1:c.1048+663C>T	ENSP00000515898.1:n.1048+663C>T
ENST00000341893.8:c.1253C>T MANE Select	ENSP00000342510.3:p.Thr418Ile
ENST00000341893.7:c.1253C>T	ENSP00000342510.3:p.Thr418Ile
ENST00000467655.1:c.868C>T	ENSP00000418547.1:n.868C>T
ENST00000489172.5:n.1235C>T
ENST00000494050.5:c.1076C>T	ENSP00000418185.1:p.Thr359Ile
NM_001303401.1:c.1076C>T	NP_001290330.1:p.Thr359Ile
NM_024548.3:c.1253C>T	NP_078824.2:p.Thr418Ile
XM_006713743.2:c.1151C>T	XP_006713806.1:p.Thr384Ile
XM_011513125.1:c.1037C>T	XP_011511427.1:p.Thr346Ile
XM_011513126.1:c.1037C>T	XP_011511428.1:p.Thr346Ile
XM_011513127.1:c.905C>T	XP_011511429.1:p.Thr302Ile
XM_006713743.4:c.1151C>T	XP_006713806.1:p.Thr384Ile
XM_017007178.2:c.974C>T	XP_016862667.1:p.Thr325Ile
NM_024548.4:c.1253C>T MANE Select	NP_078824.2:p.Thr418Ile
NM_001303401.2:c.1076C>T	NP_001290330.1:p.Thr359Ile