Canonical Allele Identifier: CA392343478
Gene: CEP152 HGNC NCBI

Linked Data

dbSNP Id: rs757583921

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.48756484G>A , CM000677.2:g.48756484G>A GRCh38
NC_000015.9:g.49048681G>A , CM000677.1:g.49048681G>A GRCh37
NC_000015.8:g.46835973G>A NCBI36
NG_027518.1:g.59663C>T
NG_027518.2:g.59663C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000380950.7:c.2764C>T MANE Select ENSP00000370337.2:p.Leu922Phe
ENST00000325747.9:c.2485C>T ENSP00000321000.5:p.Leu829Phe
ENST00000380950.6:c.2764C>T ENSP00000370337.2:p.Leu922Phe
ENST00000399334.7:c.2764C>T ENSP00000382271.3:p.Leu922Phe
NM_001194998.1:c.2764C>T NP_001181927.1:p.Leu922Phe
NM_014985.3:c.2764C>T NP_055800.2:p.Leu922Phe
XM_006720437.2:c.2764C>T XP_006720500.1:p.Leu922Phe
XM_011521373.1:c.2764C>T XP_011519675.1:p.Leu922Phe
XM_011521374.1:c.2764C>T XP_011519676.1:p.Leu922Phe
XM_011521375.1:c.2764C>T XP_011519677.1:p.Leu922Phe
XM_011521376.1:c.2764C>T XP_011519678.1:p.Leu922Phe
XM_011521377.1:c.2764C>T XP_011519679.1:p.Leu922Phe
XM_011521378.1:c.2764C>T XP_011519680.1:p.Leu922Phe
XM_011521379.1:c.2764C>T XP_011519681.1:p.Leu922Phe
XM_011521380.1:c.805C>T XP_011519682.1:p.Leu269Phe
XM_011521381.1:c.799C>T XP_011519683.1:p.Leu267Phe
XR_931769.1:n.3729C>T
XR_931770.1:n.3729C>T
XR_931771.1:n.3729C>T
XR_931772.1:n.3729C>T
XR_931773.1:n.3729C>T
XR_931774.1:n.3729C>T
XR_931775.1:n.3729C>T
XM_006720437.3:c.2764C>T XP_006720500.1:p.Leu922Phe
XM_011521373.3:c.2764C>T XP_011519675.1:p.Leu922Phe
XM_011521374.3:c.2764C>T XP_011519676.1:p.Leu922Phe
XM_011521375.3:c.2764C>T XP_011519677.1:p.Leu922Phe
XM_011521378.3:c.2764C>T XP_011519680.1:p.Leu922Phe
XM_011521379.3:c.2764C>T XP_011519681.1:p.Leu922Phe
XM_011521381.2:c.799C>T XP_011519683.1:p.Leu267Phe
XM_017022015.1:c.799C>T XP_016877504.1:p.Leu267Phe
XM_024449875.1:c.2764C>T XP_024305643.1:p.Leu922Phe
XR_001751153.2:n.3715C>T
XR_931769.3:n.3715C>T
XR_931770.3:n.3715C>T
XR_931775.3:n.3715C>T
NM_001194998.2:c.2764C>T MANE Select NP_001181927.1:p.Leu922Phe
NM_014985.4:c.2764C>T NP_055800.2:p.Leu922Phe