Canonical Allele Identifier: CA16042273
Gene: CEP78 HGNC NCBI

Linked Data

ClinVar Variation Id: 372269
ClinVar RCV Id: RCV000412597 RCV001002940
dbSNP Id: rs1057517694
MyVariant Identifiers: chr9:g.80863206G>A (hg19) chr9:g.78248290G>A (hg38)
PubMed: PMID:27588452
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.78248290G>A , CM000671.2:g.78248290G>A GRCh38
NC_000009.11:g.80863206G>A , CM000671.1:g.80863206G>A GRCh37
NC_000009.10:g.80053026G>A NCBI36
NG_053171.1:g.17229G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376597.9:c.893-1G>A ENSP00000365782.4:n.893-1G>A
ENST00000376598.3:c.893-1G>A ENSP00000365783.3:n.893-1G>A
ENST00000642214.1:c.893-1G>A ENSP00000493662.1:n.893-1G>A
ENST00000642654.1:c.*688-1G>A ENSP00000495267.1:n.*688-1G>A
ENST00000642669.1:c.893-1G>A ENSP00000495681.1:n.893-1G>A
ENST00000643273.2:c.893-1G>A MANE Select ENSP00000496423.2:n.893-1G>A
ENST00000643347.1:c.893-1G>A ENSP00000494781.1:n.893-1G>A
ENST00000643499.1:c.893-1G>A ENSP00000495962.1:n.893-1G>A
ENST00000643847.1:c.779-1G>A ENSP00000494276.1:n.779-1G>A
ENST00000644208.1:c.893-1G>A ENSP00000493600.1:n.893-1G>A
ENST00000645398.1:c.893-1G>A ENSP00000493822.1:n.893-1G>A
ENST00000645865.1:c.*615-1G>A ENSP00000494841.1:n.*615-1G>A
ENST00000646288.1:c.835-1G>A ENSP00000496131.1:n.835-1G>A
ENST00000647130.1:c.928-1G>A ENSP00000496303.1:n.928-1G>A
ENST00000647199.1:c.893-1G>A ENSP00000496384.1:n.893-1G>A
ENST00000277082.9:c.893-1G>A ENSP00000277082.5:n.893-1G>A
ENST00000376597.8:c.893-1G>A ENSP00000365782.4:n.893-1G>A
ENST00000376598.2:c.893-1G>A ENSP00000365783.2:n.893-1G>A
ENST00000415759.6:c.893-1G>A ENSP00000399286.2:n.893-1G>A
ENST00000424347.6:c.893-1G>A ENSP00000411284.2:n.893-1G>A
ENST00000476652.2:n.463+11687G>A
ENST00000536374.1:n.1219-1G>A
NM_001098802.1:c.893-1G>A NP_001092272.1:n.893-1G>A
NM_032171.1:c.893-1G>A NP_115547.1:n.893-1G>A
XM_005252263.3:c.893-1G>A XP_005252320.1:n.893-1G>A
XM_005252265.1:c.893-1G>A XP_005252322.1:n.893-1G>A
XM_005252266.3:c.632-1G>A XP_005252323.1:n.632-1G>A
NM_001098802.2:c.893-1G>A NP_001092272.1:n.893-1G>A
NM_001330691.2:c.893-1G>A NP_001317620.1:n.893-1G>A
NM_001330693.2:c.893-1G>A NP_001317622.1:n.893-1G>A
NM_001330694.1:c.893-1G>A NP_001317623.1:n.893-1G>A
NM_001349838.1:c.893-1G>A NP_001336767.1:n.893-1G>A
NM_001349839.1:c.893-1G>A NP_001336768.1:n.893-1G>A
NM_001349840.1:c.893-1G>A NP_001336769.1:n.893-1G>A
NM_032171.2:c.893-1G>A NP_115547.1:n.893-1G>A
XM_005252266.4:c.632-1G>A XP_005252323.1:n.632-1G>A
XM_017015196.1:c.632-1G>A XP_016870685.1:n.632-1G>A
NM_001098802.3:c.893-1G>A NP_001092272.1:n.893-1G>A
NM_001330691.3:c.893-1G>A MANE Select NP_001317620.1:n.893-1G>A
NM_001330693.3:c.893-1G>A NP_001317622.1:n.893-1G>A
NM_001330694.2:c.893-1G>A NP_001317623.1:n.893-1G>A
NM_001349838.2:c.893-1G>A NP_001336767.1:n.893-1G>A
NM_001349839.2:c.893-1G>A NP_001336768.1:n.893-1G>A
NM_001349840.2:c.893-1G>A NP_001336769.1:n.893-1G>A
NM_032171.3:c.893-1G>A NP_115547.1:n.893-1G>A
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