Canonical Allele Identifier: CA7548993
Gene: CEP152 HGNC NCBI

Linked Data

ClinVar Variation Id: 316429
dbSNP Id: rs199862615

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48791284T>G , CM000677.2:g.48791284T>G GRCh38
NC_000015.9:g.49083481T>G , CM000677.1:g.49083481T>G GRCh37
NC_000015.8:g.46870773T>G NCBI36
NG_027518.1:g.24863A>C
NG_027518.2:g.24863A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.925A>C MANE Select ENSP00000370337.2:p.Lys309Gln
ENST00000325747.9:c.646A>C ENSP00000321000.5:p.Lys216Gln
ENST00000380950.6:c.925A>C ENSP00000370337.2:p.Lys309Gln
ENST00000399334.7:c.925A>C ENSP00000382271.3:p.Lys309Gln
ENST00000560322.5:c.925A>C ENSP00000453440.1:p.Lys309Gln
NM_001194998.1:c.925A>C NP_001181927.1:p.Lys309Gln
NM_014985.3:c.925A>C NP_055800.2:p.Lys309Gln
XM_006720437.2:c.925A>C XP_006720500.1:p.Lys309Gln
XM_011521373.1:c.925A>C XP_011519675.1:p.Lys309Gln
XM_011521374.1:c.925A>C XP_011519676.1:p.Lys309Gln
XM_011521375.1:c.925A>C XP_011519677.1:p.Lys309Gln
XM_011521376.1:c.925A>C XP_011519678.1:p.Lys309Gln
XM_011521377.1:c.925A>C XP_011519679.1:p.Lys309Gln
XM_011521378.1:c.925A>C XP_011519680.1:p.Lys309Gln
XM_011521379.1:c.925A>C XP_011519681.1:p.Lys309Gln
XR_931769.1:n.1890A>C
XR_931770.1:n.1890A>C
XR_931771.1:n.1890A>C
XR_931772.1:n.1890A>C
XR_931773.1:n.1890A>C
XR_931774.1:n.1890A>C
XR_931775.1:n.1890A>C
XM_006720437.3:c.925A>C XP_006720500.1:p.Lys309Gln
XM_011521373.3:c.925A>C XP_011519675.1:p.Lys309Gln
XM_011521374.3:c.925A>C XP_011519676.1:p.Lys309Gln
XM_011521375.3:c.925A>C XP_011519677.1:p.Lys309Gln
XM_011521378.3:c.925A>C XP_011519680.1:p.Lys309Gln
XM_011521379.3:c.925A>C XP_011519681.1:p.Lys309Gln
XM_017022016.2:c.925A>C XP_016877505.1:p.Lys309Gln
XM_024449875.1:c.925A>C XP_024305643.1:p.Lys309Gln
XR_001751153.2:n.1876A>C
XR_931769.3:n.1876A>C
XR_931770.3:n.1876A>C
XR_931775.3:n.1876A>C
NM_001194998.2:c.925A>C MANE Select NP_001181927.1:p.Lys309Gln
NM_014985.4:c.925A>C NP_055800.2:p.Lys309Gln