Canonical Allele Identifier: CA434728217

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476596G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757752G>T , CM000665.2:g.101757752G>T	GRCh38
NC_000003.11:g.101476596G>T , CM000665.1:g.101476596G>T	GRCh37
NC_000003.10:g.102959286G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*781G>T	ENSP00000419009.1:n.*781G>T
ENST00000467655.2:c.*233G>T	ENSP00000418547.2:n.*233G>T
ENST00000704365.1:c.1146G>T	ENSP00000515873.1:p.Leu382=
ENST00000704366.1:c.1044G>T	ENSP00000515874.1:p.Leu348=
ENST00000704367.1:c.926-59G>T	ENSP00000515875.1:n.926-59G>T
ENST00000704368.1:n.1639G>T
ENST00000704369.1:c.660G>T	ENSP00000515876.1:p.Leu220=
ENST00000704370.1:c.1140G>T	ENSP00000515877.1:p.Leu380=
ENST00000704372.1:n.1500G>T
ENST00000704444.1:c.930G>T	ENSP00000515896.1:p.Leu310=
ENST00000704445.1:c.798G>T	ENSP00000515897.1:p.Leu266=
ENST00000704446.1:c.1048+556G>T	ENSP00000515898.1:n.1048+556G>T
ENST00000341893.8:c.1146G>T MANE Select	ENSP00000342510.3:p.Leu382=
ENST00000341893.7:c.1146G>T	ENSP00000342510.3:p.Leu382=
ENST00000467655.1:c.761G>T	ENSP00000418547.1:n.761G>T
ENST00000489172.5:n.1128G>T
ENST00000494050.5:c.1028-59G>T	ENSP00000418185.1:n.1028-59G>T
NM_001303401.1:c.1028-59G>T	NP_001290330.1:n.1028-59G>T
NM_024548.3:c.1146G>T	NP_078824.2:p.Leu382=
XM_006713743.2:c.1044G>T	XP_006713806.1:p.Leu348=
XM_011513125.1:c.930G>T	XP_011511427.1:p.Leu310=
XM_011513126.1:c.930G>T	XP_011511428.1:p.Leu310=
XM_011513127.1:c.798G>T	XP_011511429.1:p.Leu266=
XM_006713743.4:c.1044G>T	XP_006713806.1:p.Leu348=
XM_017007178.2:c.926-59G>T	XP_016862667.1:n.926-59G>T
NM_024548.4:c.1146G>T MANE Select	NP_078824.2:p.Leu382=
NM_001303401.2:c.1028-59G>T	NP_001290330.1:n.1028-59G>T