Canonical Allele Identifier: CA79787228

Gene: CEP97

Linked Data

• ClinVar Variation Id: 1908189
• ClinVar RCV Id: RCV002581365
• dbSNP Id: rs914451601
• MyVariant Identifiers: chr3:g.101450768G>A (hg19) ; chr3:g.101731924G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.101731924G>A , CM000665.2:g.101731924G>A	GRCh38
NC_000003.11:g.101450768G>A , CM000665.1:g.101450768G>A	GRCh37
NC_000003.10:g.102933458G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000465011.2:c.*167G>A	ENSP00000419009.1:n.*167G>A
ENST00000467655.2:c.430G>A	ENSP00000418547.2:p.Ala144Thr
ENST00000704365.1:c.532G>A	ENSP00000515873.1:p.Ala178Thr
ENST00000704366.1:c.430G>A	ENSP00000515874.1:p.Ala144Thr
ENST00000704367.1:c.430G>A	ENSP00000515875.1:p.Ala144Thr
ENST00000704368.1:n.588G>A
ENST00000704369.1:c.46G>A	ENSP00000515876.1:p.Ala16Thr
ENST00000704370.1:c.526G>A	ENSP00000515877.1:p.Ala176Thr
ENST00000704371.1:n.523G>A
ENST00000704372.1:n.886G>A
ENST00000704444.1:c.316G>A	ENSP00000515896.1:p.Ala106Thr
ENST00000704445.1:c.184G>A	ENSP00000515897.1:p.Ala62Thr
ENST00000704446.1:c.553G>A	ENSP00000515898.1:p.Ala185Thr
ENST00000341893.8:c.532G>A MANE Select	ENSP00000342510.3:p.Ala178Thr
ENST00000341893.7:c.532G>A	ENSP00000342510.3:p.Ala178Thr
ENST00000465011.1:c.*167G>A	ENSP00000419009.1:n.*167G>A
ENST00000467655.1:c.157G>A	ENSP00000418547.1:p.Ala53Thr
ENST00000489172.5:n.514G>A
ENST00000494050.5:c.532G>A	ENSP00000418185.1:p.Ala178Thr
NM_001303401.1:c.532G>A	NP_001290330.1:p.Ala178Thr
NM_024548.3:c.532G>A	NP_078824.2:p.Ala178Thr
XM_006713743.2:c.430G>A	XP_006713806.1:p.Ala144Thr
XM_011513125.1:c.316G>A	XP_011511427.1:p.Ala106Thr
XM_011513126.1:c.316G>A	XP_011511428.1:p.Ala106Thr
XM_011513127.1:c.184G>A	XP_011511429.1:p.Ala62Thr
XM_006713743.4:c.430G>A	XP_006713806.1:p.Ala144Thr
XM_017007178.2:c.430G>A	XP_016862667.1:p.Ala144Thr
NM_024548.4:c.532G>A MANE Select	NP_078824.2:p.Ala178Thr
NM_001303401.2:c.532G>A	NP_001290330.1:p.Ala178Thr