Canonical Allele Identifier: CA434872990

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476938T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758094T>C , CM000665.2:g.101758094T>C	GRCh38
NC_000003.11:g.101476938T>C , CM000665.1:g.101476938T>C	GRCh37
NC_000003.10:g.102959628T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1123T>C	ENSP00000419009.1:n.*1123T>C
ENST00000467655.2:c.*575T>C	ENSP00000418547.2:n.*575T>C
ENST00000704365.1:c.1488T>C	ENSP00000515873.1:p.Asp496=
ENST00000704366.1:c.1386T>C	ENSP00000515874.1:p.Asp462=
ENST00000704367.1:c.1209T>C	ENSP00000515875.1:p.Asp403=
ENST00000704368.1:n.1981T>C
ENST00000704369.1:c.1002T>C	ENSP00000515876.1:p.Asp334=
ENST00000704370.1:c.1482T>C	ENSP00000515877.1:p.Asp494=
ENST00000704372.1:n.1842T>C
ENST00000704444.1:c.1272T>C	ENSP00000515896.1:p.Asp424=
ENST00000704445.1:c.1140T>C	ENSP00000515897.1:p.Asp380=
ENST00000704446.1:c.1048+898T>C	ENSP00000515898.1:n.1048+898T>C
ENST00000341893.8:c.1488T>C MANE Select	ENSP00000342510.3:p.Asp496=
ENST00000341893.7:c.1488T>C	ENSP00000342510.3:p.Asp496=
ENST00000467655.1:c.1103T>C	ENSP00000418547.1:n.1103T>C
ENST00000489172.5:n.1470T>C
ENST00000494050.5:c.1311T>C	ENSP00000418185.1:p.Asp437=
NM_001303401.1:c.1311T>C	NP_001290330.1:p.Asp437=
NM_024548.3:c.1488T>C	NP_078824.2:p.Asp496=
XM_006713743.2:c.1386T>C	XP_006713806.1:p.Asp462=
XM_011513125.1:c.1272T>C	XP_011511427.1:p.Asp424=
XM_011513126.1:c.1272T>C	XP_011511428.1:p.Asp424=
XM_011513127.1:c.1140T>C	XP_011511429.1:p.Asp380=
XM_006713743.4:c.1386T>C	XP_006713806.1:p.Asp462=
XM_017007178.2:c.1209T>C	XP_016862667.1:p.Asp403=
NM_024548.4:c.1488T>C MANE Select	NP_078824.2:p.Asp496=
NM_001303401.2:c.1311T>C	NP_001290330.1:p.Asp437=