Canonical Allele Identifier: CA372489862
Community Standard Title: NM_078480.3(PUF60):c.822C>A (p.Tyr274Ter)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143817778G>T , CM000670.2:g.143817778G>T GRCh38
NC_000008.9:g.144971936G>T NCBI36
NG_030583.1:g.2602C>A
NG_033879.1:g.16609C>A

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.822C>A MANE Select NP_510965.1:p.Tyr274Ter
ENST00000526683.6:c.822C>A MANE Select ENSP00000434359.1:p.Tyr274Ter
NM_001136033.2:c.693C>A NP_001129505.1:p.Tyr231Ter
NM_001136033.3:c.693C>A NP_001129505.1:p.Tyr231Ter
NM_001271096.1:c.768C>A NP_001258025.1:p.Tyr256Ter
NM_001271096.2:c.768C>A NP_001258025.1:p.Tyr256Ter
NM_001271097.1:c.684C>A NP_001258026.1:p.Tyr228Ter
NM_001271097.2:c.684C>A NP_001258026.1:p.Tyr228Ter
NM_001271098.1:c.819C>A NP_001258027.1:p.Tyr273Ter
NM_001271098.2:c.819C>A NP_001258027.1:p.Tyr273Ter
NM_001271099.1:c.735C>A NP_001258028.1:p.Tyr245Ter
NM_001271099.2:c.735C>A NP_001258028.1:p.Tyr245Ter
NM_001271100.1:c.642C>A NP_001258029.1:p.Tyr214Ter
NM_001271100.2:c.642C>A NP_001258029.1:p.Tyr214Ter
NM_001362895.1:c.933C>A NP_001349824.1:p.Tyr311Ter
NM_001362895.2:c.933C>A NP_001349824.1:p.Tyr311Ter
NM_001362896.1:c.933C>A NP_001349825.1:p.Tyr311Ter
NM_001362896.2:c.933C>A NP_001349825.1:p.Tyr311Ter
NM_001362897.1:c.882C>A NP_001349826.1:p.Tyr294Ter
NM_001362897.2:c.882C>A NP_001349826.1:p.Tyr294Ter
NM_014281.4:c.771C>A NP_055096.2:p.Tyr257Ter
NM_014281.5:c.771C>A NP_055096.2:p.Tyr257Ter
NM_078480.2:c.822C>A NP_510965.1:p.Tyr274Ter
ENST00000313352.11:c.642C>A ENSP00000322016.7:p.Tyr214Ter
ENST00000349157.10:c.771C>A ENSP00000322036.7:p.Tyr257Ter
ENST00000453551.6:c.693C>A ENSP00000402953.2:p.Tyr231Ter
ENST00000456095.6:c.735C>A ENSP00000395417.2:p.Tyr245Ter
ENST00000524570.5:n.1508C>A
ENST00000524570.6:n.1520C>A
ENST00000526151.6:n.2877C>A
ENST00000526459.5:c.768C>A ENSP00000432610.1:p.Tyr256Ter
ENST00000526459.6:c.768C>A ENSP00000432610.2:p.Tyr256Ter
ENST00000526683.5:c.822C>A ENSP00000434359.1:p.Tyr274Ter
ENST00000527197.5:c.684C>A ENSP00000431960.1:p.Tyr228Ter
ENST00000527744.5:c.815C>A
ENST00000527744.6:c.819C>A ENSP00000436131.2:p.Tyr273Ter
ENST00000531951.6:c.693C>A ENSP00000515500.1:p.Tyr231Ter
ENST00000532127.6:c.*667C>A ENSP00000515484.1:n.*667C>A
ENST00000532884.1:c.431C>A
ENST00000533162.2:c.933C>A ENSP00000433403.2:p.Tyr311Ter
ENST00000533362.2:c.897C>A ENSP00000515502.1:p.Tyr299Ter
ENST00000703744.1:n.1533C>A
ENST00000703803.1:n.1087C>A
ENST00000703846.1:c.693C>A ENSP00000515498.1:p.Tyr231Ter
ENST00000703847.1:c.933C>A ENSP00000515499.1:p.Tyr311Ter
ENST00000703848.1:n.853C>A
ENST00000703849.1:c.693C>A ENSP00000515501.1:p.Tyr231Ter
ENST00000703850.1:c.897C>A ENSP00000515503.1:p.Tyr299Ter
ENST00000703851.1:n.742C>A
ENST00000703852.1:c.*745C>A ENSP00000515504.1:n.*745C>A
ENST00000703866.1:c.822C>A ENSP00000515511.1:p.Tyr274Ter
XM_011516929.1:c.933C>A XP_011515231.1:p.Tyr311Ter
XM_011516930.1:c.882C>A XP_011515232.1:p.Tyr294Ter
XM_017013234.1:c.933C>A XP_016868723.1:p.Tyr311Ter
XM_017013235.1:c.897C>A XP_016868724.1:p.Tyr299Ter
XM_017013236.1:c.882C>A XP_016868725.1:p.Tyr294Ter
XM_017013239.1:c.693C>A XP_016868728.1:p.Tyr231Ter
XM_017013240.1:c.642C>A XP_016868729.1:p.Tyr214Ter