Canonical Allele Identifier: CA372493736
Community Standard Title: NM_078480.3(PUF60):c.389G>C (p.Arg130Pro)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818494C>G , CM000670.2:g.143818494C>G GRCh38
NC_000008.9:g.144972652C>G NCBI36
NG_030583.1:g.1886G>C
NG_033879.1:g.15893G>C

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.389G>C MANE Select NP_510965.1:p.Arg130Pro
ENST00000526683.6:c.389G>C MANE Select ENSP00000434359.1:p.Arg130Pro
NM_001136033.2:c.260G>C NP_001129505.1:p.Arg87Pro
NM_001136033.3:c.260G>C NP_001129505.1:p.Arg87Pro
NM_001271096.1:c.335G>C NP_001258025.1:p.Arg112Pro
NM_001271096.2:c.335G>C NP_001258025.1:p.Arg112Pro
NM_001271097.1:c.251G>C NP_001258026.1:p.Arg84Pro
NM_001271097.2:c.251G>C NP_001258026.1:p.Arg84Pro
NM_001271098.1:c.386G>C NP_001258027.1:p.Arg129Pro
NM_001271098.2:c.386G>C NP_001258027.1:p.Arg129Pro
NM_001271099.1:c.302G>C NP_001258028.1:p.Arg101Pro
NM_001271099.2:c.302G>C NP_001258028.1:p.Arg101Pro
NM_001271100.1:c.209G>C NP_001258029.1:p.Arg70Pro
NM_001271100.2:c.209G>C NP_001258029.1:p.Arg70Pro
NM_001362895.1:c.500G>C NP_001349824.1:p.Arg167Pro
NM_001362895.2:c.500G>C NP_001349824.1:p.Arg167Pro
NM_001362896.1:c.500G>C NP_001349825.1:p.Arg167Pro
NM_001362896.2:c.500G>C NP_001349825.1:p.Arg167Pro
NM_001362897.1:c.449G>C NP_001349826.1:p.Arg150Pro
NM_001362897.2:c.449G>C NP_001349826.1:p.Arg150Pro
NM_014281.4:c.338G>C NP_055096.2:p.Arg113Pro
NM_014281.5:c.338G>C NP_055096.2:p.Arg113Pro
NM_078480.2:c.389G>C NP_510965.1:p.Arg130Pro
ENST00000313352.11:c.209G>C ENSP00000322016.7:p.Arg70Pro
ENST00000349157.10:c.338G>C ENSP00000322036.7:p.Arg113Pro
ENST00000453551.6:c.260G>C ENSP00000402953.2:p.Arg87Pro
ENST00000456095.6:c.302G>C ENSP00000395417.2:p.Arg101Pro
ENST00000524570.5:n.1075G>C
ENST00000524570.6:n.1087G>C
ENST00000526151.6:n.2444G>C
ENST00000526459.5:c.335G>C ENSP00000432610.1:p.Arg112Pro
ENST00000526459.6:c.335G>C ENSP00000432610.2:p.Arg112Pro
ENST00000526683.5:c.389G>C ENSP00000434359.1:p.Arg130Pro
ENST00000527197.5:c.251G>C ENSP00000431960.1:p.Arg84Pro
ENST00000527584.5:n.426G>C
ENST00000527744.5:c.382G>C
ENST00000527744.6:c.386G>C ENSP00000436131.2:p.Arg129Pro
ENST00000528320.5:n.314G>C
ENST00000528999.5:n.120G>C
ENST00000529693.1:n.470G>C
ENST00000529999.5:c.449G>C ENSP00000434863.1:p.Arg150Pro
ENST00000531897.5:c.449G>C ENSP00000437309.1:p.Arg150Pro
ENST00000531951.5:n.549G>C
ENST00000531951.6:c.260G>C ENSP00000515500.1:p.Arg87Pro
ENST00000532127.6:c.*234G>C ENSP00000515484.1:n.*234G>C
ENST00000533162.1:c.500G>C ENSP00000433403.1:p.Arg167Pro
ENST00000533162.2:c.500G>C ENSP00000433403.2:p.Arg167Pro
ENST00000533362.2:c.464G>C ENSP00000515502.1:p.Arg155Pro
ENST00000703744.1:n.1100G>C
ENST00000703803.1:n.537G>C
ENST00000703846.1:c.260G>C ENSP00000515498.1:p.Arg87Pro
ENST00000703847.1:c.500G>C ENSP00000515499.1:p.Arg167Pro
ENST00000703848.1:n.420G>C
ENST00000703849.1:c.260G>C ENSP00000515501.1:p.Arg87Pro
ENST00000703850.1:c.464G>C ENSP00000515503.1:p.Arg155Pro
ENST00000703851.1:n.309G>C
ENST00000703852.1:c.*312G>C ENSP00000515504.1:n.*312G>C
ENST00000703853.1:n.303G>C
ENST00000703866.1:c.389G>C ENSP00000515511.1:p.Arg130Pro
XM_011516929.1:c.500G>C XP_011515231.1:p.Arg167Pro
XM_011516930.1:c.449G>C XP_011515232.1:p.Arg150Pro
XM_017013234.1:c.500G>C XP_016868723.1:p.Arg167Pro
XM_017013235.1:c.464G>C XP_016868724.1:p.Arg155Pro
XM_017013236.1:c.449G>C XP_016868725.1:p.Arg150Pro
XM_017013239.1:c.260G>C XP_016868728.1:p.Arg87Pro
XM_017013240.1:c.209G>C XP_016868729.1:p.Arg70Pro