Canonical Allele Identifier: CA372490978
Community Standard Title: NM_078480.3(PUF60):c.628C>T (p.Gln210Ter)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818051G>A , CM000670.2:g.143818051G>A GRCh38
NC_000008.9:g.144972209G>A NCBI36
NG_030583.1:g.2329C>T
NG_033879.1:g.16336C>T

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.628C>T MANE Select NP_510965.1:p.Gln210Ter
ENST00000526683.6:c.628C>T MANE Select ENSP00000434359.1:p.Gln210Ter
NM_001136033.2:c.499C>T NP_001129505.1:p.Gln167Ter
NM_001136033.3:c.499C>T NP_001129505.1:p.Gln167Ter
NM_001271096.1:c.574C>T NP_001258025.1:p.Gln192Ter
NM_001271096.2:c.574C>T NP_001258025.1:p.Gln192Ter
NM_001271097.1:c.490C>T NP_001258026.1:p.Gln164Ter
NM_001271097.2:c.490C>T NP_001258026.1:p.Gln164Ter
NM_001271098.1:c.625C>T NP_001258027.1:p.Gln209Ter
NM_001271098.2:c.625C>T NP_001258027.1:p.Gln209Ter
NM_001271099.1:c.541C>T NP_001258028.1:p.Gln181Ter
NM_001271099.2:c.541C>T NP_001258028.1:p.Gln181Ter
NM_001271100.1:c.448C>T NP_001258029.1:p.Gln150Ter
NM_001271100.2:c.448C>T NP_001258029.1:p.Gln150Ter
NM_001362895.1:c.739C>T NP_001349824.1:p.Gln247Ter
NM_001362895.2:c.739C>T NP_001349824.1:p.Gln247Ter
NM_001362896.1:c.739C>T NP_001349825.1:p.Gln247Ter
NM_001362896.2:c.739C>T NP_001349825.1:p.Gln247Ter
NM_001362897.1:c.688C>T NP_001349826.1:p.Gln230Ter
NM_001362897.2:c.688C>T NP_001349826.1:p.Gln230Ter
NM_014281.4:c.577C>T NP_055096.2:p.Gln193Ter
NM_014281.5:c.577C>T NP_055096.2:p.Gln193Ter
NM_078480.2:c.628C>T NP_510965.1:p.Gln210Ter
ENST00000313352.11:c.448C>T ENSP00000322016.7:p.Gln150Ter
ENST00000349157.10:c.577C>T ENSP00000322036.7:p.Gln193Ter
ENST00000453551.6:c.499C>T ENSP00000402953.2:p.Gln167Ter
ENST00000456095.6:c.541C>T ENSP00000395417.2:p.Gln181Ter
ENST00000524570.5:n.1314C>T
ENST00000524570.6:n.1326C>T
ENST00000526151.6:n.2683C>T
ENST00000526459.5:c.574C>T ENSP00000432610.1:p.Gln192Ter
ENST00000526459.6:c.574C>T ENSP00000432610.2:p.Gln192Ter
ENST00000526683.5:c.628C>T ENSP00000434359.1:p.Gln210Ter
ENST00000527197.5:c.490C>T ENSP00000431960.1:p.Gln164Ter
ENST00000527744.5:c.621C>T
ENST00000527744.6:c.625C>T ENSP00000436131.2:p.Gln209Ter
ENST00000528320.5:n.757C>T
ENST00000528999.5:n.359C>T
ENST00000529999.5:c.688C>T ENSP00000434863.1:p.Gln230Ter
ENST00000531897.5:c.688C>T ENSP00000437309.1:p.Gln230Ter
ENST00000531951.5:n.788C>T
ENST00000531951.6:c.499C>T ENSP00000515500.1:p.Gln167Ter
ENST00000532127.6:c.*473C>T ENSP00000515484.1:n.*473C>T
ENST00000532884.1:c.314+25C>T
ENST00000533162.2:c.739C>T ENSP00000433403.2:p.Gln247Ter
ENST00000533362.2:c.703C>T ENSP00000515502.1:p.Gln235Ter
ENST00000703744.1:n.1339C>T
ENST00000703803.1:n.893C>T
ENST00000703846.1:c.499C>T ENSP00000515498.1:p.Gln167Ter
ENST00000703847.1:c.739C>T ENSP00000515499.1:p.Gln247Ter
ENST00000703848.1:n.659C>T
ENST00000703849.1:c.499C>T ENSP00000515501.1:p.Gln167Ter
ENST00000703850.1:c.703C>T ENSP00000515503.1:p.Gln235Ter
ENST00000703851.1:n.548C>T
ENST00000703852.1:c.*551C>T ENSP00000515504.1:n.*551C>T
ENST00000703853.1:n.542C>T
ENST00000703866.1:c.628C>T ENSP00000515511.1:p.Gln210Ter
XM_011516929.1:c.739C>T XP_011515231.1:p.Gln247Ter
XM_011516930.1:c.688C>T XP_011515232.1:p.Gln230Ter
XM_017013234.1:c.739C>T XP_016868723.1:p.Gln247Ter
XM_017013235.1:c.703C>T XP_016868724.1:p.Gln235Ter
XM_017013236.1:c.688C>T XP_016868725.1:p.Gln230Ter
XM_017013239.1:c.499C>T XP_016868728.1:p.Gln167Ter
XM_017013240.1:c.448C>T XP_016868729.1:p.Gln150Ter