Canonical Allele Identifier: CA1388867480

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757942C= , CM000665.2:g.101757942C=	GRCh38
NC_000003.11:g.101476786C= , CM000665.1:g.101476786C=	GRCh37
NC_000003.10:g.102959476C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*971C=	ENSP00000419009.1:n.*971C=
ENST00000467655.2:c.*423C=	ENSP00000418547.2:n.*423C=
ENST00000704365.1:c.1336C=	ENSP00000515873.1:p.Gln446=
ENST00000704366.1:c.1234C=	ENSP00000515874.1:p.Gln412=
ENST00000704367.1:c.1057C=	ENSP00000515875.1:p.Gln353=
ENST00000704368.1:n.1829C=
ENST00000704369.1:c.850C=	ENSP00000515876.1:p.Gln284=
ENST00000704370.1:c.1330C=	ENSP00000515877.1:p.Gln444=
ENST00000704372.1:n.1690C=
ENST00000704444.1:c.1120C=	ENSP00000515896.1:p.Gln374=
ENST00000704445.1:c.988C=	ENSP00000515897.1:p.Gln330=
ENST00000704446.1:c.1048+746C=	ENSP00000515898.1:n.1048+746C=
ENST00000341893.8:c.1336C= MANE Select	ENSP00000342510.3:p.Gln446=
ENST00000341893.7:c.1336C=	ENSP00000342510.3:p.Gln446=
ENST00000467655.1:c.951C=	ENSP00000418547.1:n.951C=
ENST00000489172.5:n.1318C=
ENST00000494050.5:c.1159C=	ENSP00000418185.1:p.Gln387=
NM_001303401.1:c.1159C=	NP_001290330.1:p.Gln387=
NM_024548.3:c.1336C=	NP_078824.2:p.Gln446=
XM_006713743.2:c.1234C=	XP_006713806.1:p.Gln412=
XM_011513125.1:c.1120C=	XP_011511427.1:p.Gln374=
XM_011513126.1:c.1120C=	XP_011511428.1:p.Gln374=
XM_011513127.1:c.988C=	XP_011511429.1:p.Gln330=
XM_006713743.4:c.1234C=	XP_006713806.1:p.Gln412=
XM_017007178.2:c.1057C=	XP_016862667.1:p.Gln353=
NM_024548.4:c.1336C= MANE Select	NP_078824.2:p.Gln446=
NM_001303401.2:c.1159C=	NP_001290330.1:p.Gln387=