Canonical Allele Identifier: CA372492495
Gene: PUF60 HGNC NCBI

Linked Data

MyVariant Identifiers: chr8:g.143818218A>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818218A>T , CM000670.2:g.143818218A>T GRCh38
NC_000008.9:g.144972376A>T NCBI36
NG_030583.1:g.2162T>A
NG_033879.1:g.16169T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524570.6:n.1276T>A
ENST00000526151.6:n.2633T>A
ENST00000526459.6:c.524T>A ENSP00000432610.2:p.Val175Glu
ENST00000527744.6:c.575T>A ENSP00000436131.2:p.Val192Glu
ENST00000531951.6:c.449T>A ENSP00000515500.1:p.Val150Glu
ENST00000532127.6:c.*423T>A ENSP00000515484.1:n.*423T>A
ENST00000533162.2:c.689T>A ENSP00000433403.2:p.Val230Glu
ENST00000533362.2:c.653T>A ENSP00000515502.1:p.Val218Glu
ENST00000703744.1:n.1289T>A
ENST00000703803.1:n.726T>A
ENST00000703846.1:c.449T>A ENSP00000515498.1:p.Val150Glu
ENST00000703847.1:c.689T>A ENSP00000515499.1:p.Val230Glu
ENST00000703848.1:n.609T>A
ENST00000703849.1:c.449T>A ENSP00000515501.1:p.Val150Glu
ENST00000703850.1:c.653T>A ENSP00000515503.1:p.Val218Glu
ENST00000703851.1:n.498T>A
ENST00000703852.1:c.*501T>A ENSP00000515504.1:n.*501T>A
ENST00000703853.1:n.492T>A
ENST00000703866.1:c.578T>A ENSP00000515511.1:p.Val193Glu
ENST00000526683.6:c.578T>A MANE Select ENSP00000434359.1:p.Val193Glu
ENST00000313352.11:c.398T>A ENSP00000322016.7:p.Val133Glu
ENST00000349157.10:c.527T>A ENSP00000322036.7:p.Val176Glu
ENST00000453551.6:c.449T>A ENSP00000402953.2:p.Val150Glu
ENST00000456095.6:c.491T>A ENSP00000395417.2:p.Val164Glu
ENST00000524570.5:n.1264T>A
ENST00000526459.5:c.524T>A ENSP00000432610.1:p.Val175Glu
ENST00000526683.5:c.578T>A ENSP00000434359.1:p.Val193Glu
ENST00000527197.5:c.440T>A ENSP00000431960.1:p.Val147Glu
ENST00000527744.5:c.571T>A
ENST00000528320.5:n.590T>A
ENST00000528999.5:n.309T>A
ENST00000529693.1:n.659T>A
ENST00000529999.5:c.638T>A ENSP00000434863.1:p.Val213Glu
ENST00000531897.5:c.638T>A ENSP00000437309.1:p.Val213Glu
ENST00000531951.5:n.738T>A
ENST00000532884.1:c.172T>A
NM_001136033.2:c.449T>A NP_001129505.1:p.Val150Glu
NM_001271096.1:c.524T>A NP_001258025.1:p.Val175Glu
NM_001271097.1:c.440T>A NP_001258026.1:p.Val147Glu
NM_001271098.1:c.575T>A NP_001258027.1:p.Val192Glu
NM_001271099.1:c.491T>A NP_001258028.1:p.Val164Glu
NM_001271100.1:c.398T>A NP_001258029.1:p.Val133Glu
NM_014281.4:c.527T>A NP_055096.2:p.Val176Glu
NM_078480.2:c.578T>A NP_510965.1:p.Val193Glu
XM_011516929.1:c.689T>A XP_011515231.1:p.Val230Glu
XM_011516930.1:c.638T>A XP_011515232.1:p.Val213Glu
NM_001362895.1:c.689T>A NP_001349824.1:p.Val230Glu
NM_001362896.1:c.689T>A NP_001349825.1:p.Val230Glu
NM_001362897.1:c.638T>A NP_001349826.1:p.Val213Glu
XM_017013234.1:c.689T>A XP_016868723.1:p.Val230Glu
XM_017013235.1:c.653T>A XP_016868724.1:p.Val218Glu
XM_017013236.1:c.638T>A XP_016868725.1:p.Val213Glu
XM_017013239.1:c.449T>A XP_016868728.1:p.Val150Glu
XM_017013240.1:c.398T>A XP_016868729.1:p.Val133Glu
NM_001136033.3:c.449T>A NP_001129505.1:p.Val150Glu
NM_001271096.2:c.524T>A NP_001258025.1:p.Val175Glu
NM_001271097.2:c.440T>A NP_001258026.1:p.Val147Glu
NM_001271098.2:c.575T>A NP_001258027.1:p.Val192Glu
NM_001271099.2:c.491T>A NP_001258028.1:p.Val164Glu
NM_001271100.2:c.398T>A NP_001258029.1:p.Val133Glu
NM_001362895.2:c.689T>A NP_001349824.1:p.Val230Glu
NM_001362896.2:c.689T>A NP_001349825.1:p.Val230Glu
NM_001362897.2:c.638T>A NP_001349826.1:p.Val213Glu
NM_014281.5:c.527T>A NP_055096.2:p.Val176Glu
NM_078480.3:c.578T>A MANE Select NP_510965.1:p.Val193Glu