Canonical Allele Identifier: CA372493078
Gene: PUF60 HGNC NCBI

Linked Data

ClinVar Variation Id: 425569
ClinVar RCV Id: RCV000488448
dbSNP Id: rs1085307137
MyVariant Identifiers: chr8:g.143818408C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143818408C>T , CM000670.2:g.143818408C>T GRCh38
NC_000008.9:g.144972566C>T NCBI36
NG_030583.1:g.1972G>A
NG_033879.1:g.15979G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524570.6:n.1173G>A
ENST00000526151.6:n.2530G>A
ENST00000526459.6:c.421G>A ENSP00000432610.2:p.Asp141Asn
ENST00000527744.6:c.472G>A ENSP00000436131.2:p.Asp158Asn
ENST00000531951.6:c.346G>A ENSP00000515500.1:p.Asp116Asn
ENST00000532127.6:c.*320G>A ENSP00000515484.1:n.*320G>A
ENST00000533162.2:c.586G>A ENSP00000433403.2:p.Asp196Asn
ENST00000533362.2:c.550G>A ENSP00000515502.1:p.Asp184Asn
ENST00000703744.1:n.1186G>A
ENST00000703803.1:n.623G>A
ENST00000703846.1:c.346G>A ENSP00000515498.1:p.Asp116Asn
ENST00000703847.1:c.586G>A ENSP00000515499.1:p.Asp196Asn
ENST00000703848.1:n.506G>A
ENST00000703849.1:c.346G>A ENSP00000515501.1:p.Asp116Asn
ENST00000703850.1:c.550G>A ENSP00000515503.1:p.Asp184Asn
ENST00000703851.1:n.395G>A
ENST00000703852.1:c.*398G>A ENSP00000515504.1:n.*398G>A
ENST00000703853.1:n.389G>A
ENST00000703866.1:c.475G>A ENSP00000515511.1:p.Asp159Asn
ENST00000526683.6:c.475G>A MANE Select ENSP00000434359.1:p.Asp159Asn
ENST00000313352.11:c.295G>A ENSP00000322016.7:p.Asp99Asn
ENST00000349157.10:c.424G>A ENSP00000322036.7:p.Asp142Asn
ENST00000453551.6:c.346G>A ENSP00000402953.2:p.Asp116Asn
ENST00000456095.6:c.388G>A ENSP00000395417.2:p.Asp130Asn
ENST00000524570.5:n.1161G>A
ENST00000526459.5:c.421G>A ENSP00000432610.1:p.Asp141Asn
ENST00000526683.5:c.475G>A ENSP00000434359.1:p.Asp159Asn
ENST00000527197.5:c.337G>A ENSP00000431960.1:p.Asp113Asn
ENST00000527584.5:n.512G>A
ENST00000527744.5:c.468G>A
ENST00000528320.5:n.400G>A
ENST00000528999.5:n.206G>A
ENST00000529693.1:n.556G>A
ENST00000529999.5:c.535G>A ENSP00000434863.1:p.Asp179Asn
ENST00000531897.5:c.535G>A ENSP00000437309.1:p.Asp179Asn
ENST00000531951.5:n.635G>A
ENST00000532884.1:c.69G>A
ENST00000533162.1:c.586G>A ENSP00000433403.1:p.Asp196Asn
NM_001136033.2:c.346G>A NP_001129505.1:p.Asp116Asn
NM_001271096.1:c.421G>A NP_001258025.1:p.Asp141Asn
NM_001271097.1:c.337G>A NP_001258026.1:p.Asp113Asn
NM_001271098.1:c.472G>A NP_001258027.1:p.Asp158Asn
NM_001271099.1:c.388G>A NP_001258028.1:p.Asp130Asn
NM_001271100.1:c.295G>A NP_001258029.1:p.Asp99Asn
NM_014281.4:c.424G>A NP_055096.2:p.Asp142Asn
NM_078480.2:c.475G>A NP_510965.1:p.Asp159Asn
XM_011516929.1:c.586G>A XP_011515231.1:p.Asp196Asn
XM_011516930.1:c.535G>A XP_011515232.1:p.Asp179Asn
NM_001362895.1:c.586G>A NP_001349824.1:p.Asp196Asn
NM_001362896.1:c.586G>A NP_001349825.1:p.Asp196Asn
NM_001362897.1:c.535G>A NP_001349826.1:p.Asp179Asn
XM_017013234.1:c.586G>A XP_016868723.1:p.Asp196Asn
XM_017013235.1:c.550G>A XP_016868724.1:p.Asp184Asn
XM_017013236.1:c.535G>A XP_016868725.1:p.Asp179Asn
XM_017013239.1:c.346G>A XP_016868728.1:p.Asp116Asn
XM_017013240.1:c.295G>A XP_016868729.1:p.Asp99Asn
NM_001136033.3:c.346G>A NP_001129505.1:p.Asp116Asn
NM_001271096.2:c.421G>A NP_001258025.1:p.Asp141Asn
NM_001271097.2:c.337G>A NP_001258026.1:p.Asp113Asn
NM_001271098.2:c.472G>A NP_001258027.1:p.Asp158Asn
NM_001271099.2:c.388G>A NP_001258028.1:p.Asp130Asn
NM_001271100.2:c.295G>A NP_001258029.1:p.Asp99Asn
NM_001362895.2:c.586G>A NP_001349824.1:p.Asp196Asn
NM_001362896.2:c.586G>A NP_001349825.1:p.Asp196Asn
NM_001362897.2:c.535G>A NP_001349826.1:p.Asp179Asn
NM_014281.5:c.424G>A NP_055096.2:p.Asp142Asn
NM_078480.3:c.475G>A MANE Select NP_510965.1:p.Asp159Asn