Canonical Allele Identifier: CA353876990

Gene: CEP97

Linked Data

• dbSNP Id: rs1444371449
• MyVariant Identifiers: chr3:g.101476667T>C (hg19) ; chr3:g.101757823T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101757823T>C , CM000665.2:g.101757823T>C	GRCh38
NC_000003.11:g.101476667T>C , CM000665.1:g.101476667T>C	GRCh37
NC_000003.10:g.102959357T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*852T>C	ENSP00000419009.1:n.*852T>C
ENST00000467655.2:c.*304T>C	ENSP00000418547.2:n.*304T>C
ENST00000704365.1:c.1217T>C	ENSP00000515873.1:p.Met406Thr
ENST00000704366.1:c.1115T>C	ENSP00000515874.1:p.Met372Thr
ENST00000704367.1:c.938T>C	ENSP00000515875.1:p.Met313Thr
ENST00000704368.1:n.1710T>C
ENST00000704369.1:c.731T>C	ENSP00000515876.1:p.Met244Thr
ENST00000704370.1:c.1211T>C	ENSP00000515877.1:p.Met404Thr
ENST00000704372.1:n.1571T>C
ENST00000704444.1:c.1001T>C	ENSP00000515896.1:p.Met334Thr
ENST00000704445.1:c.869T>C	ENSP00000515897.1:p.Met290Thr
ENST00000704446.1:c.1048+627T>C	ENSP00000515898.1:n.1048+627T>C
ENST00000341893.8:c.1217T>C MANE Select	ENSP00000342510.3:p.Met406Thr
ENST00000341893.7:c.1217T>C	ENSP00000342510.3:p.Met406Thr
ENST00000467655.1:c.832T>C	ENSP00000418547.1:n.832T>C
ENST00000489172.5:n.1199T>C
ENST00000494050.5:c.1040T>C	ENSP00000418185.1:p.Met347Thr
NM_001303401.1:c.1040T>C	NP_001290330.1:p.Met347Thr
NM_024548.3:c.1217T>C	NP_078824.2:p.Met406Thr
XM_006713743.2:c.1115T>C	XP_006713806.1:p.Met372Thr
XM_011513125.1:c.1001T>C	XP_011511427.1:p.Met334Thr
XM_011513126.1:c.1001T>C	XP_011511428.1:p.Met334Thr
XM_011513127.1:c.869T>C	XP_011511429.1:p.Met290Thr
XM_006713743.4:c.1115T>C	XP_006713806.1:p.Met372Thr
XM_017007178.2:c.938T>C	XP_016862667.1:p.Met313Thr
NM_024548.4:c.1217T>C MANE Select	NP_078824.2:p.Met406Thr
NM_001303401.2:c.1040T>C	NP_001290330.1:p.Met347Thr