Canonical Allele Identifier: CA353877852

Gene: CEP97

Linked Data

• MyVariant Identifiers: chr3:g.101477005G>T (hg19) ; chr3:g.101758161G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101758161G>T , CM000665.2:g.101758161G>T	GRCh38
NC_000003.11:g.101477005G>T , CM000665.1:g.101477005G>T	GRCh37
NC_000003.10:g.102959695G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*1190G>T	ENSP00000419009.1:n.*1190G>T
ENST00000467655.2:c.*642G>T	ENSP00000418547.2:n.*642G>T
ENST00000704365.1:c.1555G>T	ENSP00000515873.1:p.Glu519Ter
ENST00000704366.1:c.1453G>T	ENSP00000515874.1:p.Glu485Ter
ENST00000704367.1:c.1276G>T	ENSP00000515875.1:p.Glu426Ter
ENST00000704368.1:n.2048G>T
ENST00000704369.1:c.1069G>T	ENSP00000515876.1:p.Glu357Ter
ENST00000704370.1:c.1549G>T	ENSP00000515877.1:p.Glu517Ter
ENST00000704372.1:n.1909G>T
ENST00000704444.1:c.1339G>T	ENSP00000515896.1:p.Glu447Ter
ENST00000704445.1:c.1207G>T	ENSP00000515897.1:p.Glu403Ter
ENST00000704446.1:c.1048+965G>T	ENSP00000515898.1:n.1048+965G>T
ENST00000341893.8:c.1555G>T MANE Select	ENSP00000342510.3:p.Glu519Ter
ENST00000341893.7:c.1555G>T	ENSP00000342510.3:p.Glu519Ter
ENST00000467655.1:c.1170G>T	ENSP00000418547.1:n.1170G>T
ENST00000489172.5:n.1537G>T
ENST00000494050.5:c.1378G>T	ENSP00000418185.1:p.Glu460Ter
NM_001303401.1:c.1378G>T	NP_001290330.1:p.Glu460Ter
NM_024548.3:c.1555G>T	NP_078824.2:p.Glu519Ter
XM_006713743.2:c.1453G>T	XP_006713806.1:p.Glu485Ter
XM_011513125.1:c.1339G>T	XP_011511427.1:p.Glu447Ter
XM_011513126.1:c.1339G>T	XP_011511428.1:p.Glu447Ter
XM_011513127.1:c.1207G>T	XP_011511429.1:p.Glu403Ter
XM_006713743.4:c.1453G>T	XP_006713806.1:p.Glu485Ter
XM_017007178.2:c.1276G>T	XP_016862667.1:p.Glu426Ter
NM_024548.4:c.1555G>T MANE Select	NP_078824.2:p.Glu519Ter
NM_001303401.2:c.1378G>T	NP_001290330.1:p.Glu460Ter