Canonical Allele Identifier: CA372492685
Gene: PUF60 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143818264C>G (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818264C>G , CM000670.2:g.143818264C>G GRCh38
NC_000008.9:g.144972422C>G NCBI36
NG_030583.1:g.2116G>C
NG_033879.1:g.16123G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1230G>C
ENST00000526151.6:n.2587G>C
ENST00000526459.6:c.478G>C ENSP00000432610.2:p.Glu160Gln
ENST00000527744.6:c.529G>C ENSP00000436131.2:p.Glu177Gln
ENST00000531951.6:c.403G>C ENSP00000515500.1:p.Glu135Gln
ENST00000532127.6:c.*377G>C ENSP00000515484.1:n.*377G>C
ENST00000533162.2:c.643G>C ENSP00000433403.2:p.Glu215Gln
ENST00000533362.2:c.607G>C ENSP00000515502.1:p.Glu203Gln
ENST00000703744.1:n.1243G>C
ENST00000703803.1:n.680G>C
ENST00000703846.1:c.403G>C ENSP00000515498.1:p.Glu135Gln
ENST00000703847.1:c.643G>C ENSP00000515499.1:p.Glu215Gln
ENST00000703848.1:n.563G>C
ENST00000703849.1:c.403G>C ENSP00000515501.1:p.Glu135Gln
ENST00000703850.1:c.607G>C ENSP00000515503.1:p.Glu203Gln
ENST00000703851.1:n.452G>C
ENST00000703852.1:c.*455G>C ENSP00000515504.1:n.*455G>C
ENST00000703853.1:n.446G>C
ENST00000703866.1:c.532G>C ENSP00000515511.1:p.Glu178Gln
ENST00000526683.6:c.532G>C MANE Select ENSP00000434359.1:p.Glu178Gln
ENST00000313352.11:c.352G>C ENSP00000322016.7:p.Glu118Gln
ENST00000349157.10:c.481G>C ENSP00000322036.7:p.Glu161Gln
ENST00000453551.6:c.403G>C ENSP00000402953.2:p.Glu135Gln
ENST00000456095.6:c.445G>C ENSP00000395417.2:p.Glu149Gln
ENST00000524570.5:n.1218G>C
ENST00000526459.5:c.478G>C ENSP00000432610.1:p.Glu160Gln
ENST00000526683.5:c.532G>C ENSP00000434359.1:p.Glu178Gln
ENST00000527197.5:c.394G>C ENSP00000431960.1:p.Glu132Gln
ENST00000527744.5:c.525G>C
ENST00000528320.5:n.544G>C
ENST00000528999.5:n.263G>C
ENST00000529693.1:n.613G>C
ENST00000529999.5:c.592G>C ENSP00000434863.1:p.Glu198Gln
ENST00000531897.5:c.592G>C ENSP00000437309.1:p.Glu198Gln
ENST00000531951.5:n.692G>C
ENST00000532884.1:c.126G>C
ENST00000533162.1:c.643G>C ENSP00000433403.1:p.Glu215Gln
NM_001136033.2:c.403G>C NP_001129505.1:p.Glu135Gln
NM_001271096.1:c.478G>C NP_001258025.1:p.Glu160Gln
NM_001271097.1:c.394G>C NP_001258026.1:p.Glu132Gln
NM_001271098.1:c.529G>C NP_001258027.1:p.Glu177Gln
NM_001271099.1:c.445G>C NP_001258028.1:p.Glu149Gln
NM_001271100.1:c.352G>C NP_001258029.1:p.Glu118Gln
NM_014281.4:c.481G>C NP_055096.2:p.Glu161Gln
NM_078480.2:c.532G>C NP_510965.1:p.Glu178Gln
XM_011516929.1:c.643G>C XP_011515231.1:p.Glu215Gln
XM_011516930.1:c.592G>C XP_011515232.1:p.Glu198Gln
NM_001362895.1:c.643G>C NP_001349824.1:p.Glu215Gln
NM_001362896.1:c.643G>C NP_001349825.1:p.Glu215Gln
NM_001362897.1:c.592G>C NP_001349826.1:p.Glu198Gln
XM_017013234.1:c.643G>C XP_016868723.1:p.Glu215Gln
XM_017013235.1:c.607G>C XP_016868724.1:p.Glu203Gln
XM_017013236.1:c.592G>C XP_016868725.1:p.Glu198Gln
XM_017013239.1:c.403G>C XP_016868728.1:p.Glu135Gln
XM_017013240.1:c.352G>C XP_016868729.1:p.Glu118Gln
NM_001136033.3:c.403G>C NP_001129505.1:p.Glu135Gln
NM_001271096.2:c.478G>C NP_001258025.1:p.Glu160Gln
NM_001271097.2:c.394G>C NP_001258026.1:p.Glu132Gln
NM_001271098.2:c.529G>C NP_001258027.1:p.Glu177Gln
NM_001271099.2:c.445G>C NP_001258028.1:p.Glu149Gln
NM_001271100.2:c.352G>C NP_001258029.1:p.Glu118Gln
NM_001362895.2:c.643G>C NP_001349824.1:p.Glu215Gln
NM_001362896.2:c.643G>C NP_001349825.1:p.Glu215Gln
NM_001362897.2:c.592G>C NP_001349826.1:p.Glu198Gln
NM_014281.5:c.481G>C NP_055096.2:p.Glu161Gln
NM_078480.3:c.532G>C MANE Select NP_510965.1:p.Glu178Gln