Canonical Allele Identifier: CA386146769

Gene: CEP83

Linked Data

• gnomAD v4: 12-94378875-C-A
• MyVariant Identifiers: chr12:g.94772651C>A (hg19) ; chr12:g.94378875C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.94378875C>A , CM000674.2:g.94378875C>A	GRCh38
NC_000012.11:g.94772651C>A , CM000674.1:g.94772651C>A	GRCh37
NC_000012.10:g.93296782C>A	NCBI36
NG_051825.1:g.86114G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000397809.10:c.717G>T MANE Select	ENSP00000380911.4:p.Glu239Asp
ENST00000339839.9:c.717G>T	ENSP00000344655.5:p.Glu239Asp
ENST00000397807.6:c.330G>T	ENSP00000380909.3:p.Glu110Asp
ENST00000397809.9:c.717G>T	ENSP00000380911.4:p.Glu239Asp
ENST00000547232.5:c.618G>T	ENSP00000447783.1:p.Glu206Asp
ENST00000547575.5:c.717G>T	ENSP00000448913.1:p.Glu239Asp
ENST00000549352.1:n.561G>T
ENST00000551250.1:n.440G>T
NM_001042399.1:c.717G>T	NP_001035858.1:p.Glu239Asp
NM_016122.2:c.717G>T	NP_057206.2:p.Glu239Asp
XM_005268942.1:c.717G>T	XP_005268999.1:p.Glu239Asp
XM_006719437.1:c.717G>T	XP_006719500.1:p.Glu239Asp
XM_011538424.1:c.717G>T	XP_011536726.1:p.Glu239Asp
XM_011538425.1:c.717G>T	XP_011536727.1:p.Glu239Asp
XM_011538426.1:c.717G>T	XP_011536728.1:p.Glu239Asp
XM_011538427.1:c.405G>T	XP_011536729.1:p.Glu135Asp
XM_011538428.1:c.330G>T	XP_011536730.1:p.Glu110Asp
XM_011538429.1:c.303G>T	XP_011536731.1:p.Glu101Asp
XM_011538430.1:c.717G>T	XP_011536732.1:p.Glu239Asp
XR_944562.1:n.1244G>T
XR_944563.1:n.1244G>T
XR_944564.1:n.1244G>T
XR_944565.1:n.1244G>T
XR_944566.1:n.1244G>T
XR_944567.1:n.1244G>T
XR_944568.1:n.1244G>T
XR_944569.1:n.1244G>T
NM_001346457.1:c.717G>T	NP_001333386.1:p.Glu239Asp
NM_001346458.1:c.405G>T	NP_001333387.1:p.Glu135Asp
NM_001346459.1:c.405G>T	NP_001333388.1:p.Glu135Asp
NM_001346460.1:c.717G>T	NP_001333389.1:p.Glu239Asp
NM_001346461.1:c.717G>T	NP_001333390.1:p.Glu239Asp
NM_001346462.1:c.405G>T	NP_001333391.1:p.Glu135Asp
NR_144441.1:n.1188G>T
XM_011538424.2:c.717G>T	XP_011536726.1:p.Glu239Asp
XM_017019385.2:c.717G>T	XP_016874874.1:p.Glu239Asp
XM_017019386.2:c.717G>T	XP_016874875.1:p.Glu239Asp
XM_017019388.1:c.348G>T	XP_016874877.1:p.Glu116Asp
XM_017019389.2:c.330G>T	XP_016874878.1:p.Glu110Asp
XM_024449002.1:c.717G>T	XP_024304770.1:p.Glu239Asp
XM_024449003.1:c.348G>T	XP_024304771.1:p.Glu116Asp
XM_024449004.1:c.348G>T	XP_024304772.1:p.Glu116Asp
XM_024449005.1:c.303G>T	XP_024304773.1:p.Glu101Asp
XM_024449006.1:c.-58G>T	XP_024304774.1:n.-58G>T
XM_024449007.1:c.-58G>T	XP_024304775.1:n.-58G>T
XR_001748731.2:n.1266G>T
XR_001748732.2:n.1266G>T
XR_001748733.2:n.1266G>T
XR_001748734.2:n.1266G>T
XR_001748735.2:n.1266G>T
XR_001748736.2:n.1266G>T
XR_001748737.2:n.1266G>T
XR_001748739.2:n.1266G>T
XR_002957332.1:n.1266G>T
XR_002957333.1:n.1679G>T
NM_001346457.2:c.717G>T	NP_001333386.1:p.Glu239Asp
NM_001346460.2:c.717G>T	NP_001333389.1:p.Glu239Asp
NM_001346461.2:c.717G>T	NP_001333390.1:p.Glu239Asp
NM_001346462.2:c.405G>T	NP_001333391.1:p.Glu135Asp
NM_001368037.1:c.717G>T	NP_001354966.1:p.Glu239Asp
NM_001368038.1:c.717G>T	NP_001354967.1:p.Glu239Asp
NM_001368039.1:c.405G>T	NP_001354968.1:p.Glu135Asp
NM_001368040.1:c.405G>T	NP_001354969.1:p.Glu135Asp
NM_001368041.1:c.492G>T	NP_001354970.1:p.Glu164Asp
NM_001368042.1:c.180G>T	NP_001354971.1:p.Glu60Asp
NM_016122.3:c.717G>T MANE Select	NP_057206.2:p.Glu239Asp
NR_144441.2:n.1067G>T
NR_160431.1:n.983G>T
NR_160432.1:n.1470G>T
NM_001042399.2:c.717G>T	NP_001035858.1:p.Glu239Asp
NM_001346458.2:c.405G>T	NP_001333387.1:p.Glu135Asp
NM_001346459.2:c.405G>T	NP_001333388.1:p.Glu135Asp