Canonical Allele Identifier: CA372493012
Community Standard Title: NM_078480.3(PUF60):c.486G>A (p.Trp162Ter)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818397C>T , CM000670.2:g.143818397C>T GRCh38
NC_000008.9:g.144972555C>T NCBI36
NG_030583.1:g.1983G>A
NG_033879.1:g.15990G>A

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.486G>A MANE Select NP_510965.1:p.Trp162Ter
ENST00000526683.6:c.486G>A MANE Select ENSP00000434359.1:p.Trp162Ter
NM_001136033.2:c.357G>A NP_001129505.1:p.Trp119Ter
NM_001136033.3:c.357G>A NP_001129505.1:p.Trp119Ter
NM_001271096.1:c.432G>A NP_001258025.1:p.Trp144Ter
NM_001271096.2:c.432G>A NP_001258025.1:p.Trp144Ter
NM_001271097.1:c.348G>A NP_001258026.1:p.Trp116Ter
NM_001271097.2:c.348G>A NP_001258026.1:p.Trp116Ter
NM_001271098.1:c.483G>A NP_001258027.1:p.Trp161Ter
NM_001271098.2:c.483G>A NP_001258027.1:p.Trp161Ter
NM_001271099.1:c.399G>A NP_001258028.1:p.Trp133Ter
NM_001271099.2:c.399G>A NP_001258028.1:p.Trp133Ter
NM_001271100.1:c.306G>A NP_001258029.1:p.Trp102Ter
NM_001271100.2:c.306G>A NP_001258029.1:p.Trp102Ter
NM_001362895.1:c.597G>A NP_001349824.1:p.Trp199Ter
NM_001362895.2:c.597G>A NP_001349824.1:p.Trp199Ter
NM_001362896.1:c.597G>A NP_001349825.1:p.Trp199Ter
NM_001362896.2:c.597G>A NP_001349825.1:p.Trp199Ter
NM_001362897.1:c.546G>A NP_001349826.1:p.Trp182Ter
NM_001362897.2:c.546G>A NP_001349826.1:p.Trp182Ter
NM_014281.4:c.435G>A NP_055096.2:p.Trp145Ter
NM_014281.5:c.435G>A NP_055096.2:p.Trp145Ter
NM_078480.2:c.486G>A NP_510965.1:p.Trp162Ter
ENST00000313352.11:c.306G>A ENSP00000322016.7:p.Trp102Ter
ENST00000349157.10:c.435G>A ENSP00000322036.7:p.Trp145Ter
ENST00000453551.6:c.357G>A ENSP00000402953.2:p.Trp119Ter
ENST00000456095.6:c.399G>A ENSP00000395417.2:p.Trp133Ter
ENST00000524570.5:n.1172G>A
ENST00000524570.6:n.1184G>A
ENST00000526151.6:n.2541G>A
ENST00000526459.5:c.432G>A ENSP00000432610.1:p.Trp144Ter
ENST00000526459.6:c.432G>A ENSP00000432610.2:p.Trp144Ter
ENST00000526683.5:c.486G>A ENSP00000434359.1:p.Trp162Ter
ENST00000527197.5:c.348G>A ENSP00000431960.1:p.Trp116Ter
ENST00000527584.5:n.523G>A
ENST00000527744.5:c.479G>A
ENST00000527744.6:c.483G>A ENSP00000436131.2:p.Trp161Ter
ENST00000528320.5:n.411G>A
ENST00000528999.5:n.217G>A
ENST00000529693.1:n.567G>A
ENST00000529999.5:c.546G>A ENSP00000434863.1:p.Trp182Ter
ENST00000531897.5:c.546G>A ENSP00000437309.1:p.Trp182Ter
ENST00000531951.5:n.646G>A
ENST00000531951.6:c.357G>A ENSP00000515500.1:p.Trp119Ter
ENST00000532127.6:c.*331G>A ENSP00000515484.1:n.*331G>A
ENST00000532884.1:c.80G>A
ENST00000533162.1:c.597G>A ENSP00000433403.1:p.Trp199Ter
ENST00000533162.2:c.597G>A ENSP00000433403.2:p.Trp199Ter
ENST00000533362.2:c.561G>A ENSP00000515502.1:p.Trp187Ter
ENST00000703744.1:n.1197G>A
ENST00000703803.1:n.634G>A
ENST00000703846.1:c.357G>A ENSP00000515498.1:p.Trp119Ter
ENST00000703847.1:c.597G>A ENSP00000515499.1:p.Trp199Ter
ENST00000703848.1:n.517G>A
ENST00000703849.1:c.357G>A ENSP00000515501.1:p.Trp119Ter
ENST00000703850.1:c.561G>A ENSP00000515503.1:p.Trp187Ter
ENST00000703851.1:n.406G>A
ENST00000703852.1:c.*409G>A ENSP00000515504.1:n.*409G>A
ENST00000703853.1:n.400G>A
ENST00000703866.1:c.486G>A ENSP00000515511.1:p.Trp162Ter
XM_011516929.1:c.597G>A XP_011515231.1:p.Trp199Ter
XM_011516930.1:c.546G>A XP_011515232.1:p.Trp182Ter
XM_017013234.1:c.597G>A XP_016868723.1:p.Trp199Ter
XM_017013235.1:c.561G>A XP_016868724.1:p.Trp187Ter
XM_017013236.1:c.546G>A XP_016868725.1:p.Trp182Ter
XM_017013239.1:c.357G>A XP_016868728.1:p.Trp119Ter
XM_017013240.1:c.306G>A XP_016868729.1:p.Trp102Ter