Canonical Allele Identifier: CA372490904
Gene: PUF60 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143818039T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818039T>C , CM000670.2:g.143818039T>C GRCh38
NC_000008.9:g.144972197T>C NCBI36
NG_030583.1:g.2341A>G
NG_033879.1:g.16348A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000524570.6:n.1338A>G
ENST00000526151.6:n.2695A>G
ENST00000526459.6:c.586A>G ENSP00000432610.2:p.Ile196Val
ENST00000527744.6:c.637A>G ENSP00000436131.2:p.Ile213Val
ENST00000531951.6:c.511A>G ENSP00000515500.1:p.Ile171Val
ENST00000532127.6:c.*485A>G ENSP00000515484.1:n.*485A>G
ENST00000533162.2:c.751A>G ENSP00000433403.2:p.Ile251Val
ENST00000533362.2:c.715A>G ENSP00000515502.1:p.Ile239Val
ENST00000703744.1:n.1351A>G
ENST00000703803.1:n.905A>G
ENST00000703846.1:c.511A>G ENSP00000515498.1:p.Ile171Val
ENST00000703847.1:c.751A>G ENSP00000515499.1:p.Ile251Val
ENST00000703848.1:n.671A>G
ENST00000703849.1:c.511A>G ENSP00000515501.1:p.Ile171Val
ENST00000703850.1:c.715A>G ENSP00000515503.1:p.Ile239Val
ENST00000703851.1:n.560A>G
ENST00000703852.1:c.*563A>G ENSP00000515504.1:n.*563A>G
ENST00000703866.1:c.640A>G ENSP00000515511.1:p.Ile214Val
ENST00000526683.6:c.640A>G MANE Select ENSP00000434359.1:p.Ile214Val
ENST00000313352.11:c.460A>G ENSP00000322016.7:p.Ile154Val
ENST00000349157.10:c.589A>G ENSP00000322036.7:p.Ile197Val
ENST00000453551.6:c.511A>G ENSP00000402953.2:p.Ile171Val
ENST00000456095.6:c.553A>G ENSP00000395417.2:p.Ile185Val
ENST00000524570.5:n.1326A>G
ENST00000526459.5:c.586A>G ENSP00000432610.1:p.Ile196Val
ENST00000526683.5:c.640A>G ENSP00000434359.1:p.Ile214Val
ENST00000527197.5:c.502A>G ENSP00000431960.1:p.Ile168Val
ENST00000527744.5:c.633A>G
ENST00000528320.5:n.769A>G
ENST00000528999.5:n.371A>G
ENST00000529999.5:c.700A>G ENSP00000434863.1:p.Ile234Val
ENST00000531897.5:c.700A>G ENSP00000437309.1:p.Ile234Val
ENST00000531951.5:n.800A>G
ENST00000532884.1:c.314+37A>G
NM_001136033.2:c.511A>G NP_001129505.1:p.Ile171Val
NM_001271096.1:c.586A>G NP_001258025.1:p.Ile196Val
NM_001271097.1:c.502A>G NP_001258026.1:p.Ile168Val
NM_001271098.1:c.637A>G NP_001258027.1:p.Ile213Val
NM_001271099.1:c.553A>G NP_001258028.1:p.Ile185Val
NM_001271100.1:c.460A>G NP_001258029.1:p.Ile154Val
NM_014281.4:c.589A>G NP_055096.2:p.Ile197Val
NM_078480.2:c.640A>G NP_510965.1:p.Ile214Val
XM_011516929.1:c.751A>G XP_011515231.1:p.Ile251Val
XM_011516930.1:c.700A>G XP_011515232.1:p.Ile234Val
NM_001362895.1:c.751A>G NP_001349824.1:p.Ile251Val
NM_001362896.1:c.751A>G NP_001349825.1:p.Ile251Val
NM_001362897.1:c.700A>G NP_001349826.1:p.Ile234Val
XM_017013234.1:c.751A>G XP_016868723.1:p.Ile251Val
XM_017013235.1:c.715A>G XP_016868724.1:p.Ile239Val
XM_017013236.1:c.700A>G XP_016868725.1:p.Ile234Val
XM_017013239.1:c.511A>G XP_016868728.1:p.Ile171Val
XM_017013240.1:c.460A>G XP_016868729.1:p.Ile154Val
NM_001136033.3:c.511A>G NP_001129505.1:p.Ile171Val
NM_001271096.2:c.586A>G NP_001258025.1:p.Ile196Val
NM_001271097.2:c.502A>G NP_001258026.1:p.Ile168Val
NM_001271098.2:c.637A>G NP_001258027.1:p.Ile213Val
NM_001271099.2:c.553A>G NP_001258028.1:p.Ile185Val
NM_001271100.2:c.460A>G NP_001258029.1:p.Ile154Val
NM_001362895.2:c.751A>G NP_001349824.1:p.Ile251Val
NM_001362896.2:c.751A>G NP_001349825.1:p.Ile251Val
NM_001362897.2:c.700A>G NP_001349826.1:p.Ile234Val
NM_014281.5:c.589A>G NP_055096.2:p.Ile197Val
NM_078480.3:c.640A>G MANE Select NP_510965.1:p.Ile214Val