Canonical Allele Identifier: CA386146762

Gene: CEP83

Linked Data

• MyVariant Identifiers: chr12:g.94772648A>T (hg19) ; chr12:g.94378872A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.94378872A>T , CM000674.2:g.94378872A>T	GRCh38
NC_000012.11:g.94772648A>T , CM000674.1:g.94772648A>T	GRCh37
NC_000012.10:g.93296779A>T	NCBI36
NG_051825.1:g.86117T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397809.10:c.720T>A MANE Select	ENSP00000380911.4:p.Asn240Lys
ENST00000339839.9:c.720T>A	ENSP00000344655.5:p.Asn240Lys
ENST00000397807.6:c.333T>A	ENSP00000380909.3:p.Asn111Lys
ENST00000397809.9:c.720T>A	ENSP00000380911.4:p.Asn240Lys
ENST00000547232.5:c.621T>A	ENSP00000447783.1:p.Asn207Lys
ENST00000547575.5:c.720T>A	ENSP00000448913.1:p.Asn240Lys
ENST00000549352.1:n.564T>A
ENST00000551250.1:n.443T>A
NM_001042399.1:c.720T>A	NP_001035858.1:p.Asn240Lys
NM_016122.2:c.720T>A	NP_057206.2:p.Asn240Lys
XM_005268942.1:c.720T>A	XP_005268999.1:p.Asn240Lys
XM_006719437.1:c.720T>A	XP_006719500.1:p.Asn240Lys
XM_011538424.1:c.720T>A	XP_011536726.1:p.Asn240Lys
XM_011538425.1:c.720T>A	XP_011536727.1:p.Asn240Lys
XM_011538426.1:c.720T>A	XP_011536728.1:p.Asn240Lys
XM_011538427.1:c.408T>A	XP_011536729.1:p.Asn136Lys
XM_011538428.1:c.333T>A	XP_011536730.1:p.Asn111Lys
XM_011538429.1:c.306T>A	XP_011536731.1:p.Asn102Lys
XM_011538430.1:c.720T>A	XP_011536732.1:p.Asn240Lys
XR_944562.1:n.1247T>A
XR_944563.1:n.1247T>A
XR_944564.1:n.1247T>A
XR_944565.1:n.1247T>A
XR_944566.1:n.1247T>A
XR_944567.1:n.1247T>A
XR_944568.1:n.1247T>A
XR_944569.1:n.1247T>A
NM_001346457.1:c.720T>A	NP_001333386.1:p.Asn240Lys
NM_001346458.1:c.408T>A	NP_001333387.1:p.Asn136Lys
NM_001346459.1:c.408T>A	NP_001333388.1:p.Asn136Lys
NM_001346460.1:c.720T>A	NP_001333389.1:p.Asn240Lys
NM_001346461.1:c.720T>A	NP_001333390.1:p.Asn240Lys
NM_001346462.1:c.408T>A	NP_001333391.1:p.Asn136Lys
NR_144441.1:n.1191T>A
XM_011538424.2:c.720T>A	XP_011536726.1:p.Asn240Lys
XM_017019385.2:c.720T>A	XP_016874874.1:p.Asn240Lys
XM_017019386.2:c.720T>A	XP_016874875.1:p.Asn240Lys
XM_017019388.1:c.351T>A	XP_016874877.1:p.Asn117Lys
XM_017019389.2:c.333T>A	XP_016874878.1:p.Asn111Lys
XM_024449002.1:c.720T>A	XP_024304770.1:p.Asn240Lys
XM_024449003.1:c.351T>A	XP_024304771.1:p.Asn117Lys
XM_024449004.1:c.351T>A	XP_024304772.1:p.Asn117Lys
XM_024449005.1:c.306T>A	XP_024304773.1:p.Asn102Lys
XM_024449006.1:c.-55T>A	XP_024304774.1:n.-55T>A
XM_024449007.1:c.-55T>A	XP_024304775.1:n.-55T>A
XR_001748731.2:n.1269T>A
XR_001748732.2:n.1269T>A
XR_001748733.2:n.1269T>A
XR_001748734.2:n.1269T>A
XR_001748735.2:n.1269T>A
XR_001748736.2:n.1269T>A
XR_001748737.2:n.1269T>A
XR_001748739.2:n.1269T>A
XR_002957332.1:n.1269T>A
XR_002957333.1:n.1682T>A
NM_001346457.2:c.720T>A	NP_001333386.1:p.Asn240Lys
NM_001346460.2:c.720T>A	NP_001333389.1:p.Asn240Lys
NM_001346461.2:c.720T>A	NP_001333390.1:p.Asn240Lys
NM_001346462.2:c.408T>A	NP_001333391.1:p.Asn136Lys
NM_001368037.1:c.720T>A	NP_001354966.1:p.Asn240Lys
NM_001368038.1:c.720T>A	NP_001354967.1:p.Asn240Lys
NM_001368039.1:c.408T>A	NP_001354968.1:p.Asn136Lys
NM_001368040.1:c.408T>A	NP_001354969.1:p.Asn136Lys
NM_001368041.1:c.495T>A	NP_001354970.1:p.Asn165Lys
NM_001368042.1:c.183T>A	NP_001354971.1:p.Asn61Lys
NM_016122.3:c.720T>A MANE Select	NP_057206.2:p.Asn240Lys
NR_144441.2:n.1070T>A
NR_160431.1:n.986T>A
NR_160432.1:n.1473T>A
NM_001042399.2:c.720T>A	NP_001035858.1:p.Asn240Lys
NM_001346458.2:c.408T>A	NP_001333387.1:p.Asn136Lys
NM_001346459.2:c.408T>A	NP_001333388.1:p.Asn136Lys