Canonical Allele Identifier: CA2832431246
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818049C>T , CM000670.2:g.143818049C>T GRCh38
NC_000008.9:g.144972207C>T NCBI36
NG_030583.1:g.2331G>A
NG_033879.1:g.16338G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1328G>A
ENST00000526151.6:n.2685G>A
ENST00000526459.6:c.576G>A ENSP00000432610.2:p.Gln192=
ENST00000527744.6:c.627G>A ENSP00000436131.2:p.Gln209=
ENST00000531951.6:c.501G>A ENSP00000515500.1:p.Gln167=
ENST00000532127.6:c.*475G>A ENSP00000515484.1:n.*475G>A
ENST00000533162.2:c.741G>A ENSP00000433403.2:p.Gln247=
ENST00000533362.2:c.705G>A ENSP00000515502.1:p.Gln235=
ENST00000703744.1:n.1341G>A
ENST00000703803.1:n.895G>A
ENST00000703846.1:c.501G>A ENSP00000515498.1:p.Gln167=
ENST00000703847.1:c.741G>A ENSP00000515499.1:p.Gln247=
ENST00000703848.1:n.661G>A
ENST00000703849.1:c.501G>A ENSP00000515501.1:p.Gln167=
ENST00000703850.1:c.705G>A ENSP00000515503.1:p.Gln235=
ENST00000703851.1:n.550G>A
ENST00000703852.1:c.*553G>A ENSP00000515504.1:n.*553G>A
ENST00000703853.1:n.544G>A
ENST00000703866.1:c.630G>A ENSP00000515511.1:p.Gln210=
ENST00000526683.6:c.630G>A MANE Select ENSP00000434359.1:p.Gln210=
ENST00000313352.11:c.450G>A ENSP00000322016.7:p.Gln150=
ENST00000349157.10:c.579G>A ENSP00000322036.7:p.Gln193=
ENST00000453551.6:c.501G>A ENSP00000402953.2:p.Gln167=
ENST00000456095.6:c.543G>A ENSP00000395417.2:p.Gln181=
ENST00000524570.5:n.1316G>A
ENST00000526459.5:c.576G>A ENSP00000432610.1:p.Gln192=
ENST00000526683.5:c.630G>A ENSP00000434359.1:p.Gln210=
ENST00000527197.5:c.492G>A ENSP00000431960.1:p.Gln164=
ENST00000527744.5:c.623G>A
ENST00000528320.5:n.759G>A
ENST00000528999.5:n.361G>A
ENST00000529999.5:c.690G>A ENSP00000434863.1:p.Gln230=
ENST00000531897.5:c.690G>A ENSP00000437309.1:p.Gln230=
ENST00000531951.5:n.790G>A
ENST00000532884.1:c.314+27G>A
NM_001136033.2:c.501G>A NP_001129505.1:p.Gln167=
NM_001271096.1:c.576G>A NP_001258025.1:p.Gln192=
NM_001271097.1:c.492G>A NP_001258026.1:p.Gln164=
NM_001271098.1:c.627G>A NP_001258027.1:p.Gln209=
NM_001271099.1:c.543G>A NP_001258028.1:p.Gln181=
NM_001271100.1:c.450G>A NP_001258029.1:p.Gln150=
NM_014281.4:c.579G>A NP_055096.2:p.Gln193=
NM_078480.2:c.630G>A NP_510965.1:p.Gln210=
XM_011516929.1:c.741G>A XP_011515231.1:p.Gln247=
XM_011516930.1:c.690G>A XP_011515232.1:p.Gln230=
NM_001362895.1:c.741G>A NP_001349824.1:p.Gln247=
NM_001362896.1:c.741G>A NP_001349825.1:p.Gln247=
NM_001362897.1:c.690G>A NP_001349826.1:p.Gln230=
XM_017013234.1:c.741G>A XP_016868723.1:p.Gln247=
XM_017013235.1:c.705G>A XP_016868724.1:p.Gln235=
XM_017013236.1:c.690G>A XP_016868725.1:p.Gln230=
XM_017013239.1:c.501G>A XP_016868728.1:p.Gln167=
XM_017013240.1:c.450G>A XP_016868729.1:p.Gln150=
NM_001136033.3:c.501G>A NP_001129505.1:p.Gln167=
NM_001271096.2:c.576G>A NP_001258025.1:p.Gln192=
NM_001271097.2:c.492G>A NP_001258026.1:p.Gln164=
NM_001271098.2:c.627G>A NP_001258027.1:p.Gln209=
NM_001271099.2:c.543G>A NP_001258028.1:p.Gln181=
NM_001271100.2:c.450G>A NP_001258029.1:p.Gln150=
NM_001362895.2:c.741G>A NP_001349824.1:p.Gln247=
NM_001362896.2:c.741G>A NP_001349825.1:p.Gln247=
NM_001362897.2:c.690G>A NP_001349826.1:p.Gln230=
NM_014281.5:c.579G>A NP_055096.2:p.Gln193=
NM_078480.3:c.630G>A MANE Select NP_510965.1:p.Gln210=