Canonical Allele Identifier: CA386146754

Gene: CEP83

Linked Data

• MyVariant Identifiers: chr12:g.94772644C>T (hg19) ; chr12:g.94378868C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.94378868C>T , CM000674.2:g.94378868C>T	GRCh38
NC_000012.11:g.94772644C>T , CM000674.1:g.94772644C>T	GRCh37
NC_000012.10:g.93296775C>T	NCBI36
NG_051825.1:g.86121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397809.10:c.724G>A MANE Select	ENSP00000380911.4:p.Glu242Lys
ENST00000339839.9:c.724G>A	ENSP00000344655.5:p.Glu242Lys
ENST00000397807.6:c.337G>A	ENSP00000380909.3:p.Glu113Lys
ENST00000397809.9:c.724G>A	ENSP00000380911.4:p.Glu242Lys
ENST00000547232.5:c.625G>A	ENSP00000447783.1:p.Glu209Lys
ENST00000547575.5:c.724G>A	ENSP00000448913.1:p.Glu242Lys
ENST00000549352.1:n.568G>A
ENST00000551250.1:n.447G>A
NM_001042399.1:c.724G>A	NP_001035858.1:p.Glu242Lys
NM_016122.2:c.724G>A	NP_057206.2:p.Glu242Lys
XM_005268942.1:c.724G>A	XP_005268999.1:p.Glu242Lys
XM_006719437.1:c.724G>A	XP_006719500.1:p.Glu242Lys
XM_011538424.1:c.724G>A	XP_011536726.1:p.Glu242Lys
XM_011538425.1:c.724G>A	XP_011536727.1:p.Glu242Lys
XM_011538426.1:c.724G>A	XP_011536728.1:p.Glu242Lys
XM_011538427.1:c.412G>A	XP_011536729.1:p.Glu138Lys
XM_011538428.1:c.337G>A	XP_011536730.1:p.Glu113Lys
XM_011538429.1:c.310G>A	XP_011536731.1:p.Glu104Lys
XM_011538430.1:c.724G>A	XP_011536732.1:p.Glu242Lys
XR_944562.1:n.1251G>A
XR_944563.1:n.1251G>A
XR_944564.1:n.1251G>A
XR_944565.1:n.1251G>A
XR_944566.1:n.1251G>A
XR_944567.1:n.1251G>A
XR_944568.1:n.1251G>A
XR_944569.1:n.1251G>A
NM_001346457.1:c.724G>A	NP_001333386.1:p.Glu242Lys
NM_001346458.1:c.412G>A	NP_001333387.1:p.Glu138Lys
NM_001346459.1:c.412G>A	NP_001333388.1:p.Glu138Lys
NM_001346460.1:c.724G>A	NP_001333389.1:p.Glu242Lys
NM_001346461.1:c.724G>A	NP_001333390.1:p.Glu242Lys
NM_001346462.1:c.412G>A	NP_001333391.1:p.Glu138Lys
NR_144441.1:n.1195G>A
XM_011538424.2:c.724G>A	XP_011536726.1:p.Glu242Lys
XM_017019385.2:c.724G>A	XP_016874874.1:p.Glu242Lys
XM_017019386.2:c.724G>A	XP_016874875.1:p.Glu242Lys
XM_017019388.1:c.355G>A	XP_016874877.1:p.Glu119Lys
XM_017019389.2:c.337G>A	XP_016874878.1:p.Glu113Lys
XM_024449002.1:c.724G>A	XP_024304770.1:p.Glu242Lys
XM_024449003.1:c.355G>A	XP_024304771.1:p.Glu119Lys
XM_024449004.1:c.355G>A	XP_024304772.1:p.Glu119Lys
XM_024449005.1:c.310G>A	XP_024304773.1:p.Glu104Lys
XM_024449006.1:c.-51G>A	XP_024304774.1:n.-51G>A
XM_024449007.1:c.-51G>A	XP_024304775.1:n.-51G>A
XR_001748731.2:n.1273G>A
XR_001748732.2:n.1273G>A
XR_001748733.2:n.1273G>A
XR_001748734.2:n.1273G>A
XR_001748735.2:n.1273G>A
XR_001748736.2:n.1273G>A
XR_001748737.2:n.1273G>A
XR_001748739.2:n.1273G>A
XR_002957332.1:n.1273G>A
XR_002957333.1:n.1686G>A
NM_001346457.2:c.724G>A	NP_001333386.1:p.Glu242Lys
NM_001346460.2:c.724G>A	NP_001333389.1:p.Glu242Lys
NM_001346461.2:c.724G>A	NP_001333390.1:p.Glu242Lys
NM_001346462.2:c.412G>A	NP_001333391.1:p.Glu138Lys
NM_001368037.1:c.724G>A	NP_001354966.1:p.Glu242Lys
NM_001368038.1:c.724G>A	NP_001354967.1:p.Glu242Lys
NM_001368039.1:c.412G>A	NP_001354968.1:p.Glu138Lys
NM_001368040.1:c.412G>A	NP_001354969.1:p.Glu138Lys
NM_001368041.1:c.499G>A	NP_001354970.1:p.Glu167Lys
NM_001368042.1:c.187G>A	NP_001354971.1:p.Glu63Lys
NM_016122.3:c.724G>A MANE Select	NP_057206.2:p.Glu242Lys
NR_144441.2:n.1074G>A
NR_160431.1:n.990G>A
NR_160432.1:n.1477G>A
NM_001042399.2:c.724G>A	NP_001035858.1:p.Glu242Lys
NM_001346458.2:c.412G>A	NP_001333387.1:p.Glu138Lys
NM_001346459.2:c.412G>A	NP_001333388.1:p.Glu138Lys