Canonical Allele Identifier: CA372485599
Gene: PUF60 HGNC NCBI

Linked Data

ClinVar Variation Id: 425566
ClinVar RCV Id: RCV000488446
dbSNP Id: rs1085307134
MyVariant Identifiers: chr8:g.143816728C>T (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.143816728C>T , CM000670.2:g.143816728C>T GRCh38
NC_000008.9:g.144970886C>T NCBI36
NG_030583.1:g.3652G>A
NG_033879.1:g.17659G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000524570.6:n.2170G>A
ENST00000526151.6:n.3527G>A
ENST00000526459.6:c.1418G>A ENSP00000432610.2:p.Gly473Glu
ENST00000527744.6:c.1469G>A ENSP00000436131.2:p.Gly490Glu
ENST00000531951.6:c.1343G>A ENSP00000515500.1:p.Gly448Glu
ENST00000532127.6:c.*1317G>A ENSP00000515484.1:n.*1317G>A
ENST00000533162.2:c.1583G>A ENSP00000433403.2:p.Gly528Glu
ENST00000533362.2:c.1547G>A ENSP00000515502.1:p.Gly516Glu
ENST00000703744.1:n.2183G>A
ENST00000703803.1:n.1737G>A
ENST00000703846.1:c.1343G>A ENSP00000515498.1:p.Gly448Glu
ENST00000703847.1:c.1583G>A ENSP00000515499.1:p.Gly528Glu
ENST00000703848.1:n.1503G>A
ENST00000703849.1:c.1343G>A ENSP00000515501.1:p.Gly448Glu
ENST00000703850.1:c.1547G>A ENSP00000515503.1:p.Gly516Glu
ENST00000703866.1:c.1472G>A ENSP00000515511.1:p.Gly491Glu
ENST00000526683.6:c.1472G>A MANE Select ENSP00000434359.1:p.Gly491Glu
ENST00000313352.11:c.1292G>A ENSP00000322016.7:p.Gly431Glu
ENST00000349157.10:c.1421G>A ENSP00000322036.7:p.Gly474Glu
ENST00000453551.6:c.1343G>A ENSP00000402953.2:p.Gly448Glu
ENST00000456095.6:c.1385G>A ENSP00000395417.2:p.Gly462Glu
ENST00000526683.5:c.1472G>A ENSP00000434359.1:p.Gly491Glu
ENST00000527197.5:c.1334G>A ENSP00000431960.1:p.Gly445Glu
NM_001136033.2:c.1343G>A NP_001129505.1:p.Gly448Glu
NM_001271096.1:c.1418G>A NP_001258025.1:p.Gly473Glu
NM_001271097.1:c.1334G>A NP_001258026.1:p.Gly445Glu
NM_001271098.1:c.1469G>A NP_001258027.1:p.Gly490Glu
NM_001271099.1:c.1385G>A NP_001258028.1:p.Gly462Glu
NM_001271100.1:c.1292G>A NP_001258029.1:p.Gly431Glu
NM_014281.4:c.1421G>A NP_055096.2:p.Gly474Glu
NM_078480.2:c.1472G>A NP_510965.1:p.Gly491Glu
XM_011516929.1:c.1583G>A XP_011515231.1:p.Gly528Glu
XM_011516930.1:c.1532G>A XP_011515232.1:p.Gly511Glu
NM_001362895.1:c.1583G>A NP_001349824.1:p.Gly528Glu
NM_001362896.1:c.1583G>A NP_001349825.1:p.Gly528Glu
NM_001362897.1:c.1532G>A NP_001349826.1:p.Gly511Glu
XM_017013234.1:c.1583G>A XP_016868723.1:p.Gly528Glu
XM_017013235.1:c.1547G>A XP_016868724.1:p.Gly516Glu
XM_017013236.1:c.1532G>A XP_016868725.1:p.Gly511Glu
XM_017013239.1:c.1343G>A XP_016868728.1:p.Gly448Glu
XM_017013240.1:c.1292G>A XP_016868729.1:p.Gly431Glu
NM_001136033.3:c.1343G>A NP_001129505.1:p.Gly448Glu
NM_001271096.2:c.1418G>A NP_001258025.1:p.Gly473Glu
NM_001271097.2:c.1334G>A NP_001258026.1:p.Gly445Glu
NM_001271098.2:c.1469G>A NP_001258027.1:p.Gly490Glu
NM_001271099.2:c.1385G>A NP_001258028.1:p.Gly462Glu
NM_001271100.2:c.1292G>A NP_001258029.1:p.Gly431Glu
NM_001362895.2:c.1583G>A NP_001349824.1:p.Gly528Glu
NM_001362896.2:c.1583G>A NP_001349825.1:p.Gly528Glu
NM_001362897.2:c.1532G>A NP_001349826.1:p.Gly511Glu
NM_014281.5:c.1421G>A NP_055096.2:p.Gly474Glu
NM_078480.3:c.1472G>A MANE Select NP_510965.1:p.Gly491Glu