Canonical Allele Identifier: CA386146998

Gene: CEP83

Linked Data

• ClinVar Variation Id: 1471317
• ClinVar RCV Id: RCV001966725
• dbSNP Id: rs1566032936
• gnomAD v2: 12-94772754-T-C
• gnomAD v3: 12-94378978-T-C
• gnomAD v4: 12-94378978-T-C
• MyVariant Identifiers: chr12:g.94772754T>C (hg19) ; chr12:g.94378978T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.94378978T>C , CM000674.2:g.94378978T>C	GRCh38
NC_000012.11:g.94772754T>C , CM000674.1:g.94772754T>C	GRCh37
NC_000012.10:g.93296885T>C	NCBI36
NG_051825.1:g.86011A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397809.10:c.614A>G MANE Select	ENSP00000380911.4:p.Lys205Arg
ENST00000339839.9:c.614A>G	ENSP00000344655.5:p.Lys205Arg
ENST00000397807.6:c.227A>G	ENSP00000380909.3:p.Lys76Arg
ENST00000397809.9:c.614A>G	ENSP00000380911.4:p.Lys205Arg
ENST00000547232.5:c.515A>G	ENSP00000447783.1:p.Lys172Arg
ENST00000547575.5:c.614A>G	ENSP00000448913.1:p.Lys205Arg
ENST00000549352.1:n.458A>G
ENST00000551250.1:n.337A>G
NM_001042399.1:c.614A>G	NP_001035858.1:p.Lys205Arg
NM_016122.2:c.614A>G	NP_057206.2:p.Lys205Arg
XM_005268942.1:c.614A>G	XP_005268999.1:p.Lys205Arg
XM_006719437.1:c.614A>G	XP_006719500.1:p.Lys205Arg
XM_011538424.1:c.614A>G	XP_011536726.1:p.Lys205Arg
XM_011538425.1:c.614A>G	XP_011536727.1:p.Lys205Arg
XM_011538426.1:c.614A>G	XP_011536728.1:p.Lys205Arg
XM_011538427.1:c.302A>G	XP_011536729.1:p.Lys101Arg
XM_011538428.1:c.227A>G	XP_011536730.1:p.Lys76Arg
XM_011538429.1:c.200A>G	XP_011536731.1:p.Lys67Arg
XM_011538430.1:c.614A>G	XP_011536732.1:p.Lys205Arg
XR_944562.1:n.1141A>G
XR_944563.1:n.1141A>G
XR_944564.1:n.1141A>G
XR_944565.1:n.1141A>G
XR_944566.1:n.1141A>G
XR_944567.1:n.1141A>G
XR_944568.1:n.1141A>G
XR_944569.1:n.1141A>G
NM_001346457.1:c.614A>G	NP_001333386.1:p.Lys205Arg
NM_001346458.1:c.302A>G	NP_001333387.1:p.Lys101Arg
NM_001346459.1:c.302A>G	NP_001333388.1:p.Lys101Arg
NM_001346460.1:c.614A>G	NP_001333389.1:p.Lys205Arg
NM_001346461.1:c.614A>G	NP_001333390.1:p.Lys205Arg
NM_001346462.1:c.302A>G	NP_001333391.1:p.Lys101Arg
NR_144441.1:n.1085A>G
XM_011538424.2:c.614A>G	XP_011536726.1:p.Lys205Arg
XM_017019385.2:c.614A>G	XP_016874874.1:p.Lys205Arg
XM_017019386.2:c.614A>G	XP_016874875.1:p.Lys205Arg
XM_017019388.1:c.245A>G	XP_016874877.1:p.Lys82Arg
XM_017019389.2:c.227A>G	XP_016874878.1:p.Lys76Arg
XM_024449002.1:c.614A>G	XP_024304770.1:p.Lys205Arg
XM_024449003.1:c.245A>G	XP_024304771.1:p.Lys82Arg
XM_024449004.1:c.245A>G	XP_024304772.1:p.Lys82Arg
XM_024449005.1:c.200A>G	XP_024304773.1:p.Lys67Arg
XM_024449006.1:c.-161A>G	XP_024304774.1:n.-161A>G
XM_024449007.1:c.-161A>G	XP_024304775.1:n.-161A>G
XR_001748731.2:n.1163A>G
XR_001748732.2:n.1163A>G
XR_001748733.2:n.1163A>G
XR_001748734.2:n.1163A>G
XR_001748735.2:n.1163A>G
XR_001748736.2:n.1163A>G
XR_001748737.2:n.1163A>G
XR_001748739.2:n.1163A>G
XR_002957332.1:n.1163A>G
XR_002957333.1:n.1576A>G
NM_001346457.2:c.614A>G	NP_001333386.1:p.Lys205Arg
NM_001346460.2:c.614A>G	NP_001333389.1:p.Lys205Arg
NM_001346461.2:c.614A>G	NP_001333390.1:p.Lys205Arg
NM_001346462.2:c.302A>G	NP_001333391.1:p.Lys101Arg
NM_001368037.1:c.614A>G	NP_001354966.1:p.Lys205Arg
NM_001368038.1:c.614A>G	NP_001354967.1:p.Lys205Arg
NM_001368039.1:c.302A>G	NP_001354968.1:p.Lys101Arg
NM_001368040.1:c.302A>G	NP_001354969.1:p.Lys101Arg
NM_001368041.1:c.389A>G	NP_001354970.1:p.Lys130Arg
NM_001368042.1:c.77A>G	NP_001354971.1:p.Lys26Arg
NM_016122.3:c.614A>G MANE Select	NP_057206.2:p.Lys205Arg
NR_144441.2:n.964A>G
NR_160431.1:n.880A>G
NR_160432.1:n.1367A>G
NM_001042399.2:c.614A>G	NP_001035858.1:p.Lys205Arg
NM_001346458.2:c.302A>G	NP_001333387.1:p.Lys101Arg
NM_001346459.2:c.302A>G	NP_001333388.1:p.Lys101Arg