Canonical Allele Identifier: CA5094929

Gene: CEP78

Linked Data

• ClinVar Variation Id: 1101292
• ClinVar RCV Id: RCV001424147
• dbSNP Id: rs192810607
• ExAC: 9:80855300 A / T
• gnomAD v2: 9-80855300-A-T
• gnomAD v3: 9-78240384-A-T
• gnomAD v4: 9-78240384-A-T
• MyVariant Identifiers: chr9:g.80855300A>T (hg19) ; chr9:g.78240384A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.78240384A>T , CM000671.2:g.78240384A>T	GRCh38
NC_000009.11:g.80855300A>T , CM000671.1:g.80855300A>T	GRCh37
NC_000009.10:g.80045120A>T	NCBI36
NG_053171.1:g.9323A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376597.9:c.499+20A>T	ENSP00000365782.4:n.499+20A>T
ENST00000376598.3:c.499+20A>T	ENSP00000365783.3:n.499+20A>T
ENST00000642214.1:c.499+20A>T	ENSP00000493662.1:n.499+20A>T
ENST00000642654.1:c.*294+20A>T	ENSP00000495267.1:n.*294+20A>T
ENST00000642669.1:c.499+20A>T	ENSP00000495681.1:n.499+20A>T
ENST00000643273.2:c.499+20A>T MANE Select	ENSP00000496423.2:n.499+20A>T
ENST00000643347.1:c.499+20A>T	ENSP00000494781.1:n.499+20A>T
ENST00000643499.1:c.499+20A>T	ENSP00000495962.1:n.499+20A>T
ENST00000643847.1:c.499+20A>T	ENSP00000494276.1:n.499+20A>T
ENST00000644208.1:c.499+20A>T	ENSP00000493600.1:n.499+20A>T
ENST00000645398.1:c.499+20A>T	ENSP00000493822.1:n.499+20A>T
ENST00000645865.1:c.*221+189A>T	ENSP00000494841.1:n.*221+189A>T
ENST00000646288.1:c.555+20A>T	ENSP00000496131.1:n.555+20A>T
ENST00000647130.1:c.534+20A>T	ENSP00000496303.1:n.534+20A>T
ENST00000647199.1:c.499+20A>T	ENSP00000496384.1:n.499+20A>T
ENST00000277082.9:c.499+20A>T	ENSP00000277082.5:n.499+20A>T
ENST00000376597.8:c.499+20A>T	ENSP00000365782.4:n.499+20A>T
ENST00000376598.2:c.499+20A>T	ENSP00000365783.2:n.499+20A>T
ENST00000415759.6:c.499+20A>T	ENSP00000399286.2:n.499+20A>T
ENST00000424347.6:c.499+20A>T	ENSP00000411284.2:n.499+20A>T
ENST00000476652.2:n.463+3781A>T
ENST00000536374.1:n.825+20A>T
NM_001098802.1:c.499+20A>T	NP_001092272.1:n.499+20A>T
NM_032171.1:c.499+20A>T	NP_115547.1:n.499+20A>T
XM_005252263.3:c.499+20A>T	XP_005252320.1:n.499+20A>T
XM_005252265.1:c.499+20A>T	XP_005252322.1:n.499+20A>T
XM_005252266.3:c.238+20A>T	XP_005252323.1:n.238+20A>T
NM_001098802.2:c.499+20A>T	NP_001092272.1:n.499+20A>T
NM_001330691.2:c.499+20A>T	NP_001317620.1:n.499+20A>T
NM_001330693.2:c.499+20A>T	NP_001317622.1:n.499+20A>T
NM_001330694.1:c.499+20A>T	NP_001317623.1:n.499+20A>T
NM_001349838.1:c.499+20A>T	NP_001336767.1:n.499+20A>T
NM_001349839.1:c.499+20A>T	NP_001336768.1:n.499+20A>T
NM_001349840.1:c.499+20A>T	NP_001336769.1:n.499+20A>T
NM_032171.2:c.499+20A>T	NP_115547.1:n.499+20A>T
XM_005252266.4:c.238+20A>T	XP_005252323.1:n.238+20A>T
XM_017015196.1:c.238+20A>T	XP_016870685.1:n.238+20A>T
NM_001098802.3:c.499+20A>T	NP_001092272.1:n.499+20A>T
NM_001330691.3:c.499+20A>T MANE Select	NP_001317620.1:n.499+20A>T
NM_001330693.3:c.499+20A>T	NP_001317622.1:n.499+20A>T
NM_001330694.2:c.499+20A>T	NP_001317623.1:n.499+20A>T
NM_001349838.2:c.499+20A>T	NP_001336767.1:n.499+20A>T
NM_001349839.2:c.499+20A>T	NP_001336768.1:n.499+20A>T
NM_001349840.2:c.499+20A>T	NP_001336769.1:n.499+20A>T
NM_032171.3:c.499+20A>T	NP_115547.1:n.499+20A>T