Canonical Allele Identifier: CA353877109

Gene: CEP97

Linked Data

• COSMIC: COSM3584677 ; COSM3584678
• MyVariant Identifiers: chr3:g.101476691C>T (hg19) ; chr3:g.101757847C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757847C>T , CM000665.2:g.101757847C>T	GRCh38
NC_000003.11:g.101476691C>T , CM000665.1:g.101476691C>T	GRCh37
NC_000003.10:g.102959381C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*876C>T	ENSP00000419009.1:n.*876C>T
ENST00000467655.2:c.*328C>T	ENSP00000418547.2:n.*328C>T
ENST00000704365.1:c.1241C>T	ENSP00000515873.1:p.Pro414Leu
ENST00000704366.1:c.1139C>T	ENSP00000515874.1:p.Pro380Leu
ENST00000704367.1:c.962C>T	ENSP00000515875.1:p.Pro321Leu
ENST00000704368.1:n.1734C>T
ENST00000704369.1:c.755C>T	ENSP00000515876.1:p.Pro252Leu
ENST00000704370.1:c.1235C>T	ENSP00000515877.1:p.Pro412Leu
ENST00000704372.1:n.1595C>T
ENST00000704444.1:c.1025C>T	ENSP00000515896.1:p.Pro342Leu
ENST00000704445.1:c.893C>T	ENSP00000515897.1:p.Pro298Leu
ENST00000704446.1:c.1048+651C>T	ENSP00000515898.1:n.1048+651C>T
ENST00000341893.8:c.1241C>T MANE Select	ENSP00000342510.3:p.Pro414Leu
ENST00000341893.7:c.1241C>T	ENSP00000342510.3:p.Pro414Leu
ENST00000467655.1:c.856C>T	ENSP00000418547.1:n.856C>T
ENST00000489172.5:n.1223C>T
ENST00000494050.5:c.1064C>T	ENSP00000418185.1:p.Pro355Leu
NM_001303401.1:c.1064C>T	NP_001290330.1:p.Pro355Leu
NM_024548.3:c.1241C>T	NP_078824.2:p.Pro414Leu
XM_006713743.2:c.1139C>T	XP_006713806.1:p.Pro380Leu
XM_011513125.1:c.1025C>T	XP_011511427.1:p.Pro342Leu
XM_011513126.1:c.1025C>T	XP_011511428.1:p.Pro342Leu
XM_011513127.1:c.893C>T	XP_011511429.1:p.Pro298Leu
XM_006713743.4:c.1139C>T	XP_006713806.1:p.Pro380Leu
XM_017007178.2:c.962C>T	XP_016862667.1:p.Pro321Leu
NM_024548.4:c.1241C>T MANE Select	NP_078824.2:p.Pro414Leu
NM_001303401.2:c.1064C>T	NP_001290330.1:p.Pro355Leu