Canonical Allele Identifier: CA1388867508

Gene: CEP97

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758042C= , CM000665.2:g.101758042C=	GRCh38
NC_000003.11:g.101476886C= , CM000665.1:g.101476886C=	GRCh37
NC_000003.10:g.102959576C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1071C=	ENSP00000419009.1:n.*1071C=
ENST00000467655.2:c.*523C=	ENSP00000418547.2:n.*523C=
ENST00000704365.1:c.1436C=	ENSP00000515873.1:p.Ala479=
ENST00000704366.1:c.1334C=	ENSP00000515874.1:p.Ala445=
ENST00000704367.1:c.1157C=	ENSP00000515875.1:p.Ala386=
ENST00000704368.1:n.1929C=
ENST00000704369.1:c.950C=	ENSP00000515876.1:p.Ala317=
ENST00000704370.1:c.1430C=	ENSP00000515877.1:p.Ala477=
ENST00000704372.1:n.1790C=
ENST00000704444.1:c.1220C=	ENSP00000515896.1:p.Ala407=
ENST00000704445.1:c.1088C=	ENSP00000515897.1:p.Ala363=
ENST00000704446.1:c.1048+846C=	ENSP00000515898.1:n.1048+846C=
ENST00000341893.8:c.1436C= MANE Select	ENSP00000342510.3:p.Ala479=
ENST00000341893.7:c.1436C=	ENSP00000342510.3:p.Ala479=
ENST00000467655.1:c.1051C=	ENSP00000418547.1:n.1051C=
ENST00000489172.5:n.1418C=
ENST00000494050.5:c.1259C=	ENSP00000418185.1:p.Ala420=
NM_001303401.1:c.1259C=	NP_001290330.1:p.Ala420=
NM_024548.3:c.1436C=	NP_078824.2:p.Ala479=
XM_006713743.2:c.1334C=	XP_006713806.1:p.Ala445=
XM_011513125.1:c.1220C=	XP_011511427.1:p.Ala407=
XM_011513126.1:c.1220C=	XP_011511428.1:p.Ala407=
XM_011513127.1:c.1088C=	XP_011511429.1:p.Ala363=
XM_006713743.4:c.1334C=	XP_006713806.1:p.Ala445=
XM_017007178.2:c.1157C=	XP_016862667.1:p.Ala386=
NM_024548.4:c.1436C= MANE Select	NP_078824.2:p.Ala479=
NM_001303401.2:c.1259C=	NP_001290330.1:p.Ala420=