Canonical Allele Identifier: CA5789735
Community Standard Title: NM_145886.4(PIDD1):c.2044C>T (p.Arg682Cys)
Gene: PIDD1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.800449G>A , CM000673.2:g.800449G>A GRCh38
NC_000011.9:g.800449G>A , CM000673.1:g.800449G>A GRCh37
NC_000011.8:g.790449G>A NCBI36
NG_023407.1:g.2821C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145886.4:c.2044C>T MANE Select NP_665893.2:p.Arg682Cys
ENST00000347755.10:c.2044C>T MANE Select ENSP00000337797.5:p.Arg682Cys
NM_145886.3:c.2044C>T NP_665893.2:p.Arg682Cys
NM_145887.3:c.2044C>T NP_665894.2:p.Arg682Cys
NM_145887.4:c.2044C>T NP_665894.2:p.Arg682Cys
ENST00000347755.9:c.2044C>T ENSP00000337797.5:p.Arg682Cys
ENST00000411829.6:c.2044C>T ENSP00000416801.2:p.Arg682Cys
ENST00000524486.5:c.*2059C>T ENSP00000436146.1:n.*2059C>T
ENST00000525028.6:c.*1744C>T ENSP00000436342.1:n.*1744C>T
ENST00000527357.5:n.3371C>T
ENST00000527812.1:n.332+887C>T
ENST00000531286.5:c.1177C>T
ENST00000534525.5:n.3067C>T
ENST00000534649.2:c.*1740C>T ENSP00000508317.1:n.*1740C>T
XM_005253005.3:c.2116C>T XP_005253062.1:p.Arg706Cys
XM_005253005.5:c.2116C>T XP_005253062.1:p.Arg706Cys
XM_005253006.3:c.2116C>T XP_005253063.1:p.Arg706Cys
XM_005253006.5:c.2116C>T XP_005253063.1:p.Arg706Cys
XM_005253007.3:c.2116C>T XP_005253064.1:p.Arg706Cys
XM_005253007.4:c.2116C>T XP_005253064.1:p.Arg706Cys
XM_005253008.3:c.1678C>T XP_005253065.1:p.Arg560Cys
XM_005253008.5:c.1678C>T XP_005253065.1:p.Arg560Cys
XM_011520209.1:c.2125C>T XP_011518511.1:p.Arg709Cys
XM_011520209.3:c.2125C>T XP_011518511.1:p.Arg709Cys
XM_011520210.1:c.2044C>T XP_011518512.1:p.Arg682Cys
XM_011520210.3:c.2044C>T XP_011518512.1:p.Arg682Cys
XM_011520211.1:c.2044C>T XP_011518513.1:p.Arg682Cys
XM_011520211.3:c.2044C>T XP_011518513.1:p.Arg682Cys
XM_011520212.1:c.1678C>T XP_011518514.1:p.Arg560Cys
XM_011520212.2:c.1678C>T XP_011518514.1:p.Arg560Cys
XM_011520213.1:c.1177C>T XP_011518515.1:p.Arg393Cys
XM_011520213.2:c.1177C>T XP_011518515.1:p.Arg393Cys
XM_017017993.2:c.1105C>T XP_016873482.1:p.Arg369Cys
XR_001747921.1:n.2102C>T
XR_001747922.2:n.2598C>T
XR_930877.1:n.2102C>T