Canonical Allele Identifier: CA353877548

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476870G>A (hg19) ; chr3:g.101758026G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758026G>A , CM000665.2:g.101758026G>A	GRCh38
NC_000003.11:g.101476870G>A , CM000665.1:g.101476870G>A	GRCh37
NC_000003.10:g.102959560G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1055G>A	ENSP00000419009.1:n.*1055G>A
ENST00000467655.2:c.*507G>A	ENSP00000418547.2:n.*507G>A
ENST00000704365.1:c.1420G>A	ENSP00000515873.1:p.Glu474Lys
ENST00000704366.1:c.1318G>A	ENSP00000515874.1:p.Glu440Lys
ENST00000704367.1:c.1141G>A	ENSP00000515875.1:p.Glu381Lys
ENST00000704368.1:n.1913G>A
ENST00000704369.1:c.934G>A	ENSP00000515876.1:p.Glu312Lys
ENST00000704370.1:c.1414G>A	ENSP00000515877.1:p.Glu472Lys
ENST00000704372.1:n.1774G>A
ENST00000704444.1:c.1204G>A	ENSP00000515896.1:p.Glu402Lys
ENST00000704445.1:c.1072G>A	ENSP00000515897.1:p.Glu358Lys
ENST00000704446.1:c.1048+830G>A	ENSP00000515898.1:n.1048+830G>A
ENST00000341893.8:c.1420G>A MANE Select	ENSP00000342510.3:p.Glu474Lys
ENST00000341893.7:c.1420G>A	ENSP00000342510.3:p.Glu474Lys
ENST00000467655.1:c.1035G>A	ENSP00000418547.1:n.1035G>A
ENST00000489172.5:n.1402G>A
ENST00000494050.5:c.1243G>A	ENSP00000418185.1:p.Glu415Lys
NM_001303401.1:c.1243G>A	NP_001290330.1:p.Glu415Lys
NM_024548.3:c.1420G>A	NP_078824.2:p.Glu474Lys
XM_006713743.2:c.1318G>A	XP_006713806.1:p.Glu440Lys
XM_011513125.1:c.1204G>A	XP_011511427.1:p.Glu402Lys
XM_011513126.1:c.1204G>A	XP_011511428.1:p.Glu402Lys
XM_011513127.1:c.1072G>A	XP_011511429.1:p.Glu358Lys
XM_006713743.4:c.1318G>A	XP_006713806.1:p.Glu440Lys
XM_017007178.2:c.1141G>A	XP_016862667.1:p.Glu381Lys
NM_024548.4:c.1420G>A MANE Select	NP_078824.2:p.Glu474Lys
NM_001303401.2:c.1243G>A	NP_001290330.1:p.Glu415Lys