Canonical Allele Identifier: CA353877739

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476955C>T (hg19) ; chr3:g.101758111C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758111C>T , CM000665.2:g.101758111C>T	GRCh38
NC_000003.11:g.101476955C>T , CM000665.1:g.101476955C>T	GRCh37
NC_000003.10:g.102959645C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1140C>T	ENSP00000419009.1:n.*1140C>T
ENST00000467655.2:c.*592C>T	ENSP00000418547.2:n.*592C>T
ENST00000704365.1:c.1505C>T	ENSP00000515873.1:p.Thr502Ile
ENST00000704366.1:c.1403C>T	ENSP00000515874.1:p.Thr468Ile
ENST00000704367.1:c.1226C>T	ENSP00000515875.1:p.Thr409Ile
ENST00000704368.1:n.1998C>T
ENST00000704369.1:c.1019C>T	ENSP00000515876.1:p.Thr340Ile
ENST00000704370.1:c.1499C>T	ENSP00000515877.1:p.Thr500Ile
ENST00000704372.1:n.1859C>T
ENST00000704444.1:c.1289C>T	ENSP00000515896.1:p.Thr430Ile
ENST00000704445.1:c.1157C>T	ENSP00000515897.1:p.Thr386Ile
ENST00000704446.1:c.1048+915C>T	ENSP00000515898.1:n.1048+915C>T
ENST00000341893.8:c.1505C>T MANE Select	ENSP00000342510.3:p.Thr502Ile
ENST00000341893.7:c.1505C>T	ENSP00000342510.3:p.Thr502Ile
ENST00000467655.1:c.1120C>T	ENSP00000418547.1:n.1120C>T
ENST00000489172.5:n.1487C>T
ENST00000494050.5:c.1328C>T	ENSP00000418185.1:p.Thr443Ile
NM_001303401.1:c.1328C>T	NP_001290330.1:p.Thr443Ile
NM_024548.3:c.1505C>T	NP_078824.2:p.Thr502Ile
XM_006713743.2:c.1403C>T	XP_006713806.1:p.Thr468Ile
XM_011513125.1:c.1289C>T	XP_011511427.1:p.Thr430Ile
XM_011513126.1:c.1289C>T	XP_011511428.1:p.Thr430Ile
XM_011513127.1:c.1157C>T	XP_011511429.1:p.Thr386Ile
XM_006713743.4:c.1403C>T	XP_006713806.1:p.Thr468Ile
XM_017007178.2:c.1226C>T	XP_016862667.1:p.Thr409Ile
NM_024548.4:c.1505C>T MANE Select	NP_078824.2:p.Thr502Ile
NM_001303401.2:c.1328C>T	NP_001290330.1:p.Thr443Ile