Canonical Allele Identifier: CA372489766
Community Standard Title: NM_078480.3(PUF60):c.841C>T (p.Gln281Ter)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143817759G>A , CM000670.2:g.143817759G>A GRCh38
NC_000008.9:g.144971917G>A NCBI36
NG_030583.1:g.2621C>T
NG_033879.1:g.16628C>T

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.841C>T MANE Select NP_510965.1:p.Gln281Ter
ENST00000526683.6:c.841C>T MANE Select ENSP00000434359.1:p.Gln281Ter
NM_001136033.2:c.712C>T NP_001129505.1:p.Gln238Ter
NM_001136033.3:c.712C>T NP_001129505.1:p.Gln238Ter
NM_001271096.1:c.787C>T NP_001258025.1:p.Gln263Ter
NM_001271096.2:c.787C>T NP_001258025.1:p.Gln263Ter
NM_001271097.1:c.703C>T NP_001258026.1:p.Gln235Ter
NM_001271097.2:c.703C>T NP_001258026.1:p.Gln235Ter
NM_001271098.1:c.838C>T NP_001258027.1:p.Gln280Ter
NM_001271098.2:c.838C>T NP_001258027.1:p.Gln280Ter
NM_001271099.1:c.754C>T NP_001258028.1:p.Gln252Ter
NM_001271099.2:c.754C>T NP_001258028.1:p.Gln252Ter
NM_001271100.1:c.661C>T NP_001258029.1:p.Gln221Ter
NM_001271100.2:c.661C>T NP_001258029.1:p.Gln221Ter
NM_001362895.1:c.952C>T NP_001349824.1:p.Gln318Ter
NM_001362895.2:c.952C>T NP_001349824.1:p.Gln318Ter
NM_001362896.1:c.952C>T NP_001349825.1:p.Gln318Ter
NM_001362896.2:c.952C>T NP_001349825.1:p.Gln318Ter
NM_001362897.1:c.901C>T NP_001349826.1:p.Gln301Ter
NM_001362897.2:c.901C>T NP_001349826.1:p.Gln301Ter
NM_014281.4:c.790C>T NP_055096.2:p.Gln264Ter
NM_014281.5:c.790C>T NP_055096.2:p.Gln264Ter
NM_078480.2:c.841C>T NP_510965.1:p.Gln281Ter
ENST00000313352.11:c.661C>T ENSP00000322016.7:p.Gln221Ter
ENST00000349157.10:c.790C>T ENSP00000322036.7:p.Gln264Ter
ENST00000453551.6:c.712C>T ENSP00000402953.2:p.Gln238Ter
ENST00000456095.6:c.754C>T ENSP00000395417.2:p.Gln252Ter
ENST00000524570.5:n.1527C>T
ENST00000524570.6:n.1539C>T
ENST00000526151.6:n.2896C>T
ENST00000526459.5:c.787C>T ENSP00000432610.1:p.Gln263Ter
ENST00000526459.6:c.787C>T ENSP00000432610.2:p.Gln263Ter
ENST00000526683.5:c.841C>T ENSP00000434359.1:p.Gln281Ter
ENST00000527197.5:c.703C>T ENSP00000431960.1:p.Gln235Ter
ENST00000527744.5:c.834C>T
ENST00000527744.6:c.838C>T ENSP00000436131.2:p.Gln280Ter
ENST00000531951.6:c.712C>T ENSP00000515500.1:p.Gln238Ter
ENST00000532127.6:c.*686C>T ENSP00000515484.1:n.*686C>T
ENST00000532884.1:c.450C>T
ENST00000533162.2:c.952C>T ENSP00000433403.2:p.Gln318Ter
ENST00000533362.2:c.916C>T ENSP00000515502.1:p.Gln306Ter
ENST00000703744.1:n.1552C>T
ENST00000703803.1:n.1106C>T
ENST00000703846.1:c.712C>T ENSP00000515498.1:p.Gln238Ter
ENST00000703847.1:c.952C>T ENSP00000515499.1:p.Gln318Ter
ENST00000703848.1:n.872C>T
ENST00000703849.1:c.712C>T ENSP00000515501.1:p.Gln238Ter
ENST00000703850.1:c.916C>T ENSP00000515503.1:p.Gln306Ter
ENST00000703851.1:n.761C>T
ENST00000703852.1:c.*764C>T ENSP00000515504.1:n.*764C>T
ENST00000703866.1:c.841C>T ENSP00000515511.1:p.Gln281Ter
XM_011516929.1:c.952C>T XP_011515231.1:p.Gln318Ter
XM_011516930.1:c.901C>T XP_011515232.1:p.Gln301Ter
XM_017013234.1:c.952C>T XP_016868723.1:p.Gln318Ter
XM_017013235.1:c.916C>T XP_016868724.1:p.Gln306Ter
XM_017013236.1:c.901C>T XP_016868725.1:p.Gln301Ter
XM_017013239.1:c.712C>T XP_016868728.1:p.Gln238Ter
XM_017013240.1:c.661C>T XP_016868729.1:p.Gln221Ter