Canonical Allele Identifier: CA434728242

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476602G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757758G>C , CM000665.2:g.101757758G>C	GRCh38
NC_000003.11:g.101476602G>C , CM000665.1:g.101476602G>C	GRCh37
NC_000003.10:g.102959292G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000465011.2:c.*787G>C	ENSP00000419009.1:n.*787G>C
ENST00000467655.2:c.*239G>C	ENSP00000418547.2:n.*239G>C
ENST00000704365.1:c.1152G>C	ENSP00000515873.1:p.Leu384=
ENST00000704366.1:c.1050G>C	ENSP00000515874.1:p.Leu350=
ENST00000704367.1:c.926-53G>C	ENSP00000515875.1:n.926-53G>C
ENST00000704368.1:n.1645G>C
ENST00000704369.1:c.666G>C	ENSP00000515876.1:p.Leu222=
ENST00000704370.1:c.1146G>C	ENSP00000515877.1:p.Leu382=
ENST00000704372.1:n.1506G>C
ENST00000704444.1:c.936G>C	ENSP00000515896.1:p.Leu312=
ENST00000704445.1:c.804G>C	ENSP00000515897.1:p.Leu268=
ENST00000704446.1:c.1048+562G>C	ENSP00000515898.1:n.1048+562G>C
ENST00000341893.8:c.1152G>C MANE Select	ENSP00000342510.3:p.Leu384=
ENST00000341893.7:c.1152G>C	ENSP00000342510.3:p.Leu384=
ENST00000467655.1:c.767G>C	ENSP00000418547.1:n.767G>C
ENST00000489172.5:n.1134G>C
ENST00000494050.5:c.1028-53G>C	ENSP00000418185.1:n.1028-53G>C
NM_001303401.1:c.1028-53G>C	NP_001290330.1:n.1028-53G>C
NM_024548.3:c.1152G>C	NP_078824.2:p.Leu384=
XM_006713743.2:c.1050G>C	XP_006713806.1:p.Leu350=
XM_011513125.1:c.936G>C	XP_011511427.1:p.Leu312=
XM_011513126.1:c.936G>C	XP_011511428.1:p.Leu312=
XM_011513127.1:c.804G>C	XP_011511429.1:p.Leu268=
XM_006713743.4:c.1050G>C	XP_006713806.1:p.Leu350=
XM_017007178.2:c.926-53G>C	XP_016862667.1:n.926-53G>C
NM_024548.4:c.1152G>C MANE Select	NP_078824.2:p.Leu384=
NM_001303401.2:c.1028-53G>C	NP_001290330.1:n.1028-53G>C