Canonical Allele Identifier: CA372490644
Community Standard Title: NM_078480.3(PUF60):c.686A>C (p.Tyr229Ser)
Gene: PUF60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143817993T>G , CM000670.2:g.143817993T>G GRCh38
NC_000008.9:g.144972151T>G NCBI36
NG_030583.1:g.2387A>C
NG_033879.1:g.16394A>C

Transcript Alleles

HGVS Amino-acid Change
NM_078480.3:c.686A>C MANE Select NP_510965.1:p.Tyr229Ser
ENST00000526683.6:c.686A>C MANE Select ENSP00000434359.1:p.Tyr229Ser
NM_001136033.2:c.557A>C NP_001129505.1:p.Tyr186Ser
NM_001136033.3:c.557A>C NP_001129505.1:p.Tyr186Ser
NM_001271096.1:c.632A>C NP_001258025.1:p.Tyr211Ser
NM_001271096.2:c.632A>C NP_001258025.1:p.Tyr211Ser
NM_001271097.1:c.548A>C NP_001258026.1:p.Tyr183Ser
NM_001271097.2:c.548A>C NP_001258026.1:p.Tyr183Ser
NM_001271098.1:c.683A>C NP_001258027.1:p.Tyr228Ser
NM_001271098.2:c.683A>C NP_001258027.1:p.Tyr228Ser
NM_001271099.1:c.599A>C NP_001258028.1:p.Tyr200Ser
NM_001271099.2:c.599A>C NP_001258028.1:p.Tyr200Ser
NM_001271100.1:c.506A>C NP_001258029.1:p.Tyr169Ser
NM_001271100.2:c.506A>C NP_001258029.1:p.Tyr169Ser
NM_001362895.1:c.797A>C NP_001349824.1:p.Tyr266Ser
NM_001362895.2:c.797A>C NP_001349824.1:p.Tyr266Ser
NM_001362896.1:c.797A>C NP_001349825.1:p.Tyr266Ser
NM_001362896.2:c.797A>C NP_001349825.1:p.Tyr266Ser
NM_001362897.1:c.746A>C NP_001349826.1:p.Tyr249Ser
NM_001362897.2:c.746A>C NP_001349826.1:p.Tyr249Ser
NM_014281.4:c.635A>C NP_055096.2:p.Tyr212Ser
NM_014281.5:c.635A>C NP_055096.2:p.Tyr212Ser
NM_078480.2:c.686A>C NP_510965.1:p.Tyr229Ser
ENST00000313352.11:c.506A>C ENSP00000322016.7:p.Tyr169Ser
ENST00000349157.10:c.635A>C ENSP00000322036.7:p.Tyr212Ser
ENST00000453551.6:c.557A>C ENSP00000402953.2:p.Tyr186Ser
ENST00000456095.6:c.599A>C ENSP00000395417.2:p.Tyr200Ser
ENST00000524570.5:n.1372A>C
ENST00000524570.6:n.1384A>C
ENST00000526151.6:n.2741A>C
ENST00000526459.5:c.632A>C ENSP00000432610.1:p.Tyr211Ser
ENST00000526459.6:c.632A>C ENSP00000432610.2:p.Tyr211Ser
ENST00000526683.5:c.686A>C ENSP00000434359.1:p.Tyr229Ser
ENST00000527197.5:c.548A>C ENSP00000431960.1:p.Tyr183Ser
ENST00000527744.5:c.679A>C
ENST00000527744.6:c.683A>C ENSP00000436131.2:p.Tyr228Ser
ENST00000528320.5:n.815A>C
ENST00000528999.5:n.417A>C
ENST00000529999.5:c.746A>C ENSP00000434863.1:p.Tyr249Ser
ENST00000531951.5:n.846A>C
ENST00000531951.6:c.557A>C ENSP00000515500.1:p.Tyr186Ser
ENST00000532127.6:c.*531A>C ENSP00000515484.1:n.*531A>C
ENST00000532884.1:c.315-20A>C
ENST00000533162.2:c.797A>C ENSP00000433403.2:p.Tyr266Ser
ENST00000533362.2:c.761A>C ENSP00000515502.1:p.Tyr254Ser
ENST00000703744.1:n.1397A>C
ENST00000703803.1:n.951A>C
ENST00000703846.1:c.557A>C ENSP00000515498.1:p.Tyr186Ser
ENST00000703847.1:c.797A>C ENSP00000515499.1:p.Tyr266Ser
ENST00000703848.1:n.717A>C
ENST00000703849.1:c.557A>C ENSP00000515501.1:p.Tyr186Ser
ENST00000703850.1:c.761A>C ENSP00000515503.1:p.Tyr254Ser
ENST00000703851.1:n.606A>C
ENST00000703852.1:c.*609A>C ENSP00000515504.1:n.*609A>C
ENST00000703866.1:c.686A>C ENSP00000515511.1:p.Tyr229Ser
XM_011516929.1:c.797A>C XP_011515231.1:p.Tyr266Ser
XM_011516930.1:c.746A>C XP_011515232.1:p.Tyr249Ser
XM_017013234.1:c.797A>C XP_016868723.1:p.Tyr266Ser
XM_017013235.1:c.761A>C XP_016868724.1:p.Tyr254Ser
XM_017013236.1:c.746A>C XP_016868725.1:p.Tyr249Ser
XM_017013239.1:c.557A>C XP_016868728.1:p.Tyr186Ser
XM_017013240.1:c.506A>C XP_016868729.1:p.Tyr169Ser