Canonical Allele Identifier: CA434873049

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101476722G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757878G>A , CM000665.2:g.101757878G>A	GRCh38
NC_000003.11:g.101476722G>A , CM000665.1:g.101476722G>A	GRCh37
NC_000003.10:g.102959412G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*907G>A	ENSP00000419009.1:n.*907G>A
ENST00000467655.2:c.*359G>A	ENSP00000418547.2:n.*359G>A
ENST00000704365.1:c.1272G>A	ENSP00000515873.1:p.Gln424=
ENST00000704366.1:c.1170G>A	ENSP00000515874.1:p.Gln390=
ENST00000704367.1:c.993G>A	ENSP00000515875.1:p.Gln331=
ENST00000704368.1:n.1765G>A
ENST00000704369.1:c.786G>A	ENSP00000515876.1:p.Gln262=
ENST00000704370.1:c.1266G>A	ENSP00000515877.1:p.Gln422=
ENST00000704372.1:n.1626G>A
ENST00000704444.1:c.1056G>A	ENSP00000515896.1:p.Gln352=
ENST00000704445.1:c.924G>A	ENSP00000515897.1:p.Gln308=
ENST00000704446.1:c.1048+682G>A	ENSP00000515898.1:n.1048+682G>A
ENST00000341893.8:c.1272G>A MANE Select	ENSP00000342510.3:p.Gln424=
ENST00000341893.7:c.1272G>A	ENSP00000342510.3:p.Gln424=
ENST00000467655.1:c.887G>A	ENSP00000418547.1:n.887G>A
ENST00000489172.5:n.1254G>A
ENST00000494050.5:c.1095G>A	ENSP00000418185.1:p.Gln365=
NM_001303401.1:c.1095G>A	NP_001290330.1:p.Gln365=
NM_024548.3:c.1272G>A	NP_078824.2:p.Gln424=
XM_006713743.2:c.1170G>A	XP_006713806.1:p.Gln390=
XM_011513125.1:c.1056G>A	XP_011511427.1:p.Gln352=
XM_011513126.1:c.1056G>A	XP_011511428.1:p.Gln352=
XM_011513127.1:c.924G>A	XP_011511429.1:p.Gln308=
XM_006713743.4:c.1170G>A	XP_006713806.1:p.Gln390=
XM_017007178.2:c.993G>A	XP_016862667.1:p.Gln331=
NM_024548.4:c.1272G>A MANE Select	NP_078824.2:p.Gln424=
NM_001303401.2:c.1095G>A	NP_001290330.1:p.Gln365=