Canonical Allele Identifier: CA481501622

Gene: CEP83

Linked Data

• ClinVar Variation Id: 1567836
• ClinVar RCV Id: RCV002215030
• dbSNP Id: rs2137015791
• gnomAD v4: 12-94368134-C-T
• MyVariant Identifiers: chr12:g.94761910C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.94368134C>T , CM000674.2:g.94368134C>T	GRCh38
NC_000012.11:g.94761910C>T , CM000674.1:g.94761910C>T	GRCh37
NC_000012.10:g.93286041C>T	NCBI36
NG_051825.1:g.96855G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397809.10:c.1116G>A MANE Select	ENSP00000380911.4:p.Lys372=
ENST00000339839.9:c.1116G>A	ENSP00000344655.5:p.Lys372=
ENST00000397807.6:c.729G>A	ENSP00000380909.3:p.Lys243=
ENST00000397809.9:c.1116G>A	ENSP00000380911.4:p.Lys372=
ENST00000547232.5:c.1017G>A	ENSP00000447783.1:p.Lys339=
NM_001042399.1:c.1116G>A	NP_001035858.1:p.Lys372=
NM_016122.2:c.1116G>A	NP_057206.2:p.Lys372=
XM_005268942.1:c.1116G>A	XP_005268999.1:p.Lys372=
XM_006719437.1:c.1116G>A	XP_006719500.1:p.Lys372=
XM_011538424.1:c.1116G>A	XP_011536726.1:p.Lys372=
XM_011538425.1:c.1116G>A	XP_011536727.1:p.Lys372=
XM_011538426.1:c.1116G>A	XP_011536728.1:p.Lys372=
XM_011538427.1:c.804G>A	XP_011536729.1:p.Lys268=
XM_011538428.1:c.729G>A	XP_011536730.1:p.Lys243=
XM_011538429.1:c.702G>A	XP_011536731.1:p.Lys234=
XM_011538430.1:c.1116G>A	XP_011536732.1:p.Lys372=
XR_944562.1:n.1643G>A
XR_944563.1:n.1643G>A
XR_944564.1:n.1643G>A
XR_944565.1:n.1643G>A
XR_944566.1:n.1643G>A
XR_944567.1:n.1643G>A
XR_944568.1:n.1643G>A
XR_944569.1:n.1643G>A
NM_001346457.1:c.1116G>A	NP_001333386.1:p.Lys372=
NM_001346458.1:c.804G>A	NP_001333387.1:p.Lys268=
NM_001346459.1:c.804G>A	NP_001333388.1:p.Lys268=
XM_011538424.2:c.1116G>A	XP_011536726.1:p.Lys372=
XM_017019385.2:c.1116G>A	XP_016874874.1:p.Lys372=
XM_017019386.2:c.1116G>A	XP_016874875.1:p.Lys372=
XM_017019388.1:c.747G>A	XP_016874877.1:p.Lys249=
XM_017019389.2:c.729G>A	XP_016874878.1:p.Lys243=
XM_024449002.1:c.1116G>A	XP_024304770.1:p.Lys372=
XM_024449003.1:c.747G>A	XP_024304771.1:p.Lys249=
XM_024449004.1:c.747G>A	XP_024304772.1:p.Lys249=
XM_024449005.1:c.702G>A	XP_024304773.1:p.Lys234=
XM_024449006.1:c.342G>A	XP_024304774.1:p.Lys114=
XM_024449007.1:c.342G>A	XP_024304775.1:p.Lys114=
XR_001748731.2:n.1665G>A
XR_001748732.2:n.1665G>A
XR_001748733.2:n.1665G>A
XR_001748734.2:n.1665G>A
XR_001748735.2:n.1665G>A
XR_001748736.2:n.1665G>A
XR_001748737.2:n.1665G>A
XR_001748739.2:n.1665G>A
XR_002957332.1:n.1665G>A
XR_002957333.1:n.2078G>A
NM_001346457.2:c.1116G>A	NP_001333386.1:p.Lys372=
NM_001368037.1:c.1116G>A	NP_001354966.1:p.Lys372=
NM_001368038.1:c.1116G>A	NP_001354967.1:p.Lys372=
NM_001368039.1:c.804G>A	NP_001354968.1:p.Lys268=
NM_001368040.1:c.804G>A	NP_001354969.1:p.Lys268=
NM_001368041.1:c.891G>A	NP_001354970.1:p.Lys297=
NM_016122.3:c.1116G>A MANE Select	NP_057206.2:p.Lys372=
NR_160431.1:n.1067+10657G>A
NR_160432.1:n.1869G>A
NM_001042399.2:c.1116G>A	NP_001035858.1:p.Lys372=
NM_001346458.2:c.804G>A	NP_001333387.1:p.Lys268=
NM_001346459.2:c.804G>A	NP_001333388.1:p.Lys268=