Canonical Allele Identifier: CA5095191

Gene: CEP78

Linked Data

• ClinVar Variation Id: 372271
• ClinVar RCV Id: RCV000412542 ; RCV001861409
• dbSNP Id: rs745750156
• ExAC: 9:80868198 G / A
• gnomAD v2: 9-80868198-G-A
• gnomAD v3: 9-78253282-G-A
• gnomAD v4: 9-78253282-G-A
• MyVariant Identifiers: chr9:g.80868198G>A (hg19) ; chr9:g.78253282G>A (hg38)
• PubMed: PMID:27627988

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78253282G>A , CM000671.2:g.78253282G>A	GRCh38
NC_000009.11:g.80868198G>A , CM000671.1:g.80868198G>A	GRCh37
NC_000009.10:g.80058018G>A	NCBI36
NG_053171.1:g.22221G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376597.9:c.1254+5G>A	ENSP00000365782.4:n.1254+5G>A
ENST00000376598.3:c.1269+5G>A	ENSP00000365783.3:n.1269+5G>A
ENST00000642214.1:c.1269+5G>A	ENSP00000493662.1:n.1269+5G>A
ENST00000642654.1:c.*1064+5G>A	ENSP00000495267.1:n.*1064+5G>A
ENST00000642669.1:c.1254+5G>A	ENSP00000495681.1:n.1254+5G>A
ENST00000643273.2:c.1251+5G>A MANE Select	ENSP00000496423.2:n.1251+5G>A
ENST00000643347.1:c.1269+5G>A	ENSP00000494781.1:n.1269+5G>A
ENST00000643499.1:c.1269+5G>A	ENSP00000495962.1:n.1269+5G>A
ENST00000643847.1:c.1155+5G>A	ENSP00000494276.1:n.1155+5G>A
ENST00000644208.1:c.1272+5G>A	ENSP00000493600.1:n.1272+5G>A
ENST00000645398.1:c.1251+5G>A	ENSP00000493822.1:n.1251+5G>A
ENST00000645865.1:c.*976+5G>A	ENSP00000494841.1:n.*976+5G>A
ENST00000646288.1:c.1193+5G>A	ENSP00000496131.1:n.1193+5G>A
ENST00000647130.1:c.1286+5G>A	ENSP00000496303.1:n.1286+5G>A
ENST00000647199.1:c.1272+5G>A	ENSP00000496384.1:n.1272+5G>A
ENST00000277082.9:c.1251+5G>A	ENSP00000277082.5:n.1251+5G>A
ENST00000376597.8:c.1254+5G>A	ENSP00000365782.4:n.1254+5G>A
ENST00000376598.2:c.1251+5G>A	ENSP00000365783.2:n.1251+5G>A
ENST00000415759.6:c.1254+5G>A	ENSP00000399286.2:n.1254+5G>A
ENST00000424347.6:c.1251+5G>A	ENSP00000411284.2:n.1251+5G>A
ENST00000476652.2:n.464-13335G>A
NM_001098802.1:c.1254+5G>A	NP_001092272.1:n.1254+5G>A
NM_032171.1:c.1254+5G>A	NP_115547.1:n.1254+5G>A
XM_005252263.3:c.1254+5G>A	XP_005252320.1:n.1254+5G>A
XM_005252265.1:c.1254+5G>A	XP_005252322.1:n.1254+5G>A
XM_005252266.3:c.993+5G>A	XP_005252323.1:n.993+5G>A
NM_001098802.2:c.1254+5G>A	NP_001092272.1:n.1254+5G>A
NM_001330691.2:c.1251+5G>A	NP_001317620.1:n.1251+5G>A
NM_001330693.2:c.1251+5G>A	NP_001317622.1:n.1251+5G>A
NM_001330694.1:c.1251+5G>A	NP_001317623.1:n.1251+5G>A
NM_001349838.1:c.1251+5G>A	NP_001336767.1:n.1251+5G>A
NM_001349839.1:c.1254+5G>A	NP_001336768.1:n.1254+5G>A
NM_001349840.1:c.1254+5G>A	NP_001336769.1:n.1254+5G>A
NM_032171.2:c.1254+5G>A	NP_115547.1:n.1254+5G>A
XM_005252266.4:c.993+5G>A	XP_005252323.1:n.993+5G>A
XM_017015196.1:c.990+5G>A	XP_016870685.1:n.990+5G>A
NM_001098802.3:c.1254+5G>A	NP_001092272.1:n.1254+5G>A
NM_001330691.3:c.1251+5G>A MANE Select	NP_001317620.1:n.1251+5G>A
NM_001330693.3:c.1251+5G>A	NP_001317622.1:n.1251+5G>A
NM_001330694.2:c.1251+5G>A	NP_001317623.1:n.1251+5G>A
NM_001349838.2:c.1251+5G>A	NP_001336767.1:n.1251+5G>A
NM_001349839.2:c.1254+5G>A	NP_001336768.1:n.1254+5G>A
NM_001349840.2:c.1254+5G>A	NP_001336769.1:n.1254+5G>A
NM_032171.3:c.1254+5G>A	NP_115547.1:n.1254+5G>A