Canonical Allele Identifier: CA434873075

Gene: CEP97

Linked Data

• dbSNP Id: rs1366900961
• COSMIC: COSM3766824 ; COSM3766825
• MyVariant Identifiers: chr3:g.101476738C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757894C>T , CM000665.2:g.101757894C>T	GRCh38
NC_000003.11:g.101476738C>T , CM000665.1:g.101476738C>T	GRCh37
NC_000003.10:g.102959428C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*923C>T	ENSP00000419009.1:n.*923C>T
ENST00000467655.2:c.*375C>T	ENSP00000418547.2:n.*375C>T
ENST00000704365.1:c.1288C>T	ENSP00000515873.1:p.Leu430=
ENST00000704366.1:c.1186C>T	ENSP00000515874.1:p.Leu396=
ENST00000704367.1:c.1009C>T	ENSP00000515875.1:p.Leu337=
ENST00000704368.1:n.1781C>T
ENST00000704369.1:c.802C>T	ENSP00000515876.1:p.Leu268=
ENST00000704370.1:c.1282C>T	ENSP00000515877.1:p.Leu428=
ENST00000704372.1:n.1642C>T
ENST00000704444.1:c.1072C>T	ENSP00000515896.1:p.Leu358=
ENST00000704445.1:c.940C>T	ENSP00000515897.1:p.Leu314=
ENST00000704446.1:c.1048+698C>T	ENSP00000515898.1:n.1048+698C>T
ENST00000341893.8:c.1288C>T MANE Select	ENSP00000342510.3:p.Leu430=
ENST00000341893.7:c.1288C>T	ENSP00000342510.3:p.Leu430=
ENST00000467655.1:c.903C>T	ENSP00000418547.1:n.903C>T
ENST00000489172.5:n.1270C>T
ENST00000494050.5:c.1111C>T	ENSP00000418185.1:p.Leu371=
NM_001303401.1:c.1111C>T	NP_001290330.1:p.Leu371=
NM_024548.3:c.1288C>T	NP_078824.2:p.Leu430=
XM_006713743.2:c.1186C>T	XP_006713806.1:p.Leu396=
XM_011513125.1:c.1072C>T	XP_011511427.1:p.Leu358=
XM_011513126.1:c.1072C>T	XP_011511428.1:p.Leu358=
XM_011513127.1:c.940C>T	XP_011511429.1:p.Leu314=
XM_006713743.4:c.1186C>T	XP_006713806.1:p.Leu396=
XM_017007178.2:c.1009C>T	XP_016862667.1:p.Leu337=
NM_024548.4:c.1288C>T MANE Select	NP_078824.2:p.Leu430=
NM_001303401.2:c.1111C>T	NP_001290330.1:p.Leu371=