Canonical Allele Identifier: CA392358284
Gene: CEP152 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48797660C>A , CM000677.2:g.48797660C>A GRCh38
NC_000015.9:g.49089857C>A , CM000677.1:g.49089857C>A GRCh37
NC_000015.8:g.46877149C>A NCBI36
NG_027518.1:g.18487G>T
NG_027518.2:g.18487G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.261+1G>T MANE Select ENSP00000370337.2:n.261+1G>T
ENST00000325747.9:c.261+1G>T ENSP00000321000.5:n.261+1G>T
ENST00000380950.6:c.261+1G>T ENSP00000370337.2:n.261+1G>T
ENST00000399334.7:c.261+1G>T ENSP00000382271.3:n.261+1G>T
ENST00000560322.5:c.261+1G>T ENSP00000453440.1:n.261+1G>T
NM_001194998.1:c.261+1G>T NP_001181927.1:n.261+1G>T
NM_014985.3:c.261+1G>T NP_055800.2:n.261+1G>T
XM_006720437.2:c.261+1G>T XP_006720500.1:n.261+1G>T
XM_011521373.1:c.261+1G>T XP_011519675.1:n.261+1G>T
XM_011521374.1:c.261+1G>T XP_011519676.1:n.261+1G>T
XM_011521375.1:c.261+1G>T XP_011519677.1:n.261+1G>T
XM_011521376.1:c.261+1G>T XP_011519678.1:n.261+1G>T
XM_011521377.1:c.261+1G>T XP_011519679.1:n.261+1G>T
XM_011521378.1:c.261+1G>T XP_011519680.1:n.261+1G>T
XM_011521379.1:c.261+1G>T XP_011519681.1:n.261+1G>T
XR_931769.1:n.1226+1G>T
XR_931770.1:n.1226+1G>T
XR_931771.1:n.1226+1G>T
XR_931772.1:n.1226+1G>T
XR_931773.1:n.1226+1G>T
XR_931774.1:n.1226+1G>T
XR_931775.1:n.1226+1G>T
XM_006720437.3:c.261+1G>T XP_006720500.1:n.261+1G>T
XM_011521373.3:c.261+1G>T XP_011519675.1:n.261+1G>T
XM_011521374.3:c.261+1G>T XP_011519676.1:n.261+1G>T
XM_011521375.3:c.261+1G>T XP_011519677.1:n.261+1G>T
XM_011521378.3:c.261+1G>T XP_011519680.1:n.261+1G>T
XM_011521379.3:c.261+1G>T XP_011519681.1:n.261+1G>T
XM_017022016.2:c.261+1G>T XP_016877505.1:n.261+1G>T
XM_024449875.1:c.261+1G>T XP_024305643.1:n.261+1G>T
XR_001751153.2:n.1212+1G>T
XR_931769.3:n.1212+1G>T
XR_931770.3:n.1212+1G>T
XR_931775.3:n.1212+1G>T
NM_001194998.2:c.261+1G>T MANE Select NP_001181927.1:n.261+1G>T
NM_014985.4:c.261+1G>T NP_055800.2:n.261+1G>T
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