Canonical Allele Identifier: CA211025
Gene: CEP152 HGNC NCBI

Linked Data

ClinVar Variation Id: 158240
dbSNP Id: rs182018947

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48767448A>C , CM000677.2:g.48767448A>C GRCh38
NC_000015.9:g.49059645A>C , CM000677.1:g.49059645A>C GRCh37
NC_000015.8:g.46846937A>C NCBI36
NG_027518.1:g.48699T>G
NG_027518.2:g.48699T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.2034T>G MANE Select ENSP00000370337.2:p.Tyr678Ter
ENST00000325747.9:c.1755T>G ENSP00000321000.5:p.Tyr585Ter
ENST00000380950.6:c.2034T>G ENSP00000370337.2:p.Tyr678Ter
ENST00000399334.7:c.2034T>G ENSP00000382271.3:p.Tyr678Ter
NM_001194998.1:c.2034T>G NP_001181927.1:p.Tyr678Ter
NM_014985.3:c.2034T>G NP_055800.2:p.Tyr678Ter
XM_006720437.2:c.2034T>G XP_006720500.1:p.Tyr678Ter
XM_011521373.1:c.2034T>G XP_011519675.1:p.Tyr678Ter
XM_011521374.1:c.2034T>G XP_011519676.1:p.Tyr678Ter
XM_011521375.1:c.2034T>G XP_011519677.1:p.Tyr678Ter
XM_011521376.1:c.2034T>G XP_011519678.1:p.Tyr678Ter
XM_011521377.1:c.2034T>G XP_011519679.1:p.Tyr678Ter
XM_011521378.1:c.2034T>G XP_011519680.1:p.Tyr678Ter
XM_011521379.1:c.2034T>G XP_011519681.1:p.Tyr678Ter
XM_011521380.1:c.75T>G XP_011519682.1:p.Tyr25Ter
XM_011521381.1:c.69T>G XP_011519683.1:p.Tyr23Ter
XR_931769.1:n.2999T>G
XR_931770.1:n.2999T>G
XR_931771.1:n.2999T>G
XR_931772.1:n.2999T>G
XR_931773.1:n.2999T>G
XR_931774.1:n.2999T>G
XR_931775.1:n.2999T>G
XM_006720437.3:c.2034T>G XP_006720500.1:p.Tyr678Ter
XM_011521373.3:c.2034T>G XP_011519675.1:p.Tyr678Ter
XM_011521374.3:c.2034T>G XP_011519676.1:p.Tyr678Ter
XM_011521375.3:c.2034T>G XP_011519677.1:p.Tyr678Ter
XM_011521378.3:c.2034T>G XP_011519680.1:p.Tyr678Ter
XM_011521379.3:c.2034T>G XP_011519681.1:p.Tyr678Ter
XM_011521381.2:c.69T>G XP_011519683.1:p.Tyr23Ter
XM_017022015.1:c.69T>G XP_016877504.1:p.Tyr23Ter
XM_017022016.2:c.2034T>G XP_016877505.1:p.Tyr678Ter
XM_024449875.1:c.2034T>G XP_024305643.1:p.Tyr678Ter
XR_001751153.2:n.2985T>G
XR_931769.3:n.2985T>G
XR_931770.3:n.2985T>G
XR_931775.3:n.2985T>G
NM_001194998.2:c.2034T>G MANE Select NP_001181927.1:p.Tyr678Ter
NM_014985.4:c.2034T>G NP_055800.2:p.Tyr678Ter