Canonical Allele Identifier: CA353876389

Gene: CEP97

Linked Data

• dbSNP Id: rs1939050316
• MyVariant Identifiers: chr3:g.101476579T>C (hg19) ; chr3:g.101757735T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757735T>C , CM000665.2:g.101757735T>C	GRCh38
NC_000003.11:g.101476579T>C , CM000665.1:g.101476579T>C	GRCh37
NC_000003.10:g.102959269T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*764T>C	ENSP00000419009.1:n.*764T>C
ENST00000467655.2:c.*216T>C	ENSP00000418547.2:n.*216T>C
ENST00000704365.1:c.1129T>C	ENSP00000515873.1:p.Tyr377His
ENST00000704366.1:c.1027T>C	ENSP00000515874.1:p.Tyr343His
ENST00000704367.1:c.926-76T>C	ENSP00000515875.1:n.926-76T>C
ENST00000704368.1:n.1622T>C
ENST00000704369.1:c.643T>C	ENSP00000515876.1:p.Tyr215His
ENST00000704370.1:c.1123T>C	ENSP00000515877.1:p.Tyr375His
ENST00000704372.1:n.1483T>C
ENST00000704444.1:c.913T>C	ENSP00000515896.1:p.Tyr305His
ENST00000704445.1:c.781T>C	ENSP00000515897.1:p.Tyr261His
ENST00000704446.1:c.1048+539T>C	ENSP00000515898.1:n.1048+539T>C
ENST00000341893.8:c.1129T>C MANE Select	ENSP00000342510.3:p.Tyr377His
ENST00000341893.7:c.1129T>C	ENSP00000342510.3:p.Tyr377His
ENST00000467655.1:c.744T>C	ENSP00000418547.1:n.744T>C
ENST00000489172.5:n.1111T>C
ENST00000494050.5:c.1028-76T>C	ENSP00000418185.1:n.1028-76T>C
NM_001303401.1:c.1028-76T>C	NP_001290330.1:n.1028-76T>C
NM_024548.3:c.1129T>C	NP_078824.2:p.Tyr377His
XM_006713743.2:c.1027T>C	XP_006713806.1:p.Tyr343His
XM_011513125.1:c.913T>C	XP_011511427.1:p.Tyr305His
XM_011513126.1:c.913T>C	XP_011511428.1:p.Tyr305His
XM_011513127.1:c.781T>C	XP_011511429.1:p.Tyr261His
XM_006713743.4:c.1027T>C	XP_006713806.1:p.Tyr343His
XM_017007178.2:c.926-76T>C	XP_016862667.1:n.926-76T>C
NM_024548.4:c.1129T>C MANE Select	NP_078824.2:p.Tyr377His
NM_001303401.2:c.1028-76T>C	NP_001290330.1:n.1028-76T>C