Canonical Allele Identifier: CA187616584

Gene: PUF60

Linked Data

• dbSNP Id: rs528045493
• gnomAD v4: 8-143818334-G-A
• MyVariant Identifiers: chr8:g.143818334G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818334G>A , CM000670.2:g.143818334G>A	GRCh38
NC_000008.9:g.144972492G>A	NCBI36
NG_030583.1:g.2046C>T
NG_033879.1:g.16053C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1208+39C>T
ENST00000526151.6:n.2565+39C>T
ENST00000526459.6:c.456+39C>T	ENSP00000432610.2:n.456+39C>T
ENST00000527744.6:c.507+39C>T	ENSP00000436131.2:n.507+39C>T
ENST00000531951.6:c.381+39C>T	ENSP00000515500.1:n.381+39C>T
ENST00000532127.6:c.*355+39C>T	ENSP00000515484.1:n.*355+39C>T
ENST00000533162.2:c.621+39C>T	ENSP00000433403.2:n.621+39C>T
ENST00000533362.2:c.585+39C>T	ENSP00000515502.1:n.585+39C>T
ENST00000703744.1:n.1221+39C>T
ENST00000703803.1:n.658+39C>T
ENST00000703846.1:c.381+39C>T	ENSP00000515498.1:n.381+39C>T
ENST00000703847.1:c.621+39C>T	ENSP00000515499.1:n.621+39C>T
ENST00000703848.1:n.541+39C>T
ENST00000703849.1:c.381+39C>T	ENSP00000515501.1:n.381+39C>T
ENST00000703850.1:c.585+39C>T	ENSP00000515503.1:n.585+39C>T
ENST00000703851.1:n.430+39C>T
ENST00000703852.1:c.*433+39C>T	ENSP00000515504.1:n.*433+39C>T
ENST00000703853.1:n.424+39C>T
ENST00000703866.1:c.510+39C>T	ENSP00000515511.1:n.510+39C>T
ENST00000526683.6:c.510+39C>T MANE Select	ENSP00000434359.1:n.510+39C>T
ENST00000313352.11:c.330+39C>T	ENSP00000322016.7:n.330+39C>T
ENST00000349157.10:c.459+39C>T	ENSP00000322036.7:n.459+39C>T
ENST00000453551.6:c.381+39C>T	ENSP00000402953.2:n.381+39C>T
ENST00000456095.6:c.423+39C>T	ENSP00000395417.2:n.423+39C>T
ENST00000524570.5:n.1196+39C>T
ENST00000526459.5:c.456+39C>T	ENSP00000432610.1:n.456+39C>T
ENST00000526683.5:c.510+39C>T	ENSP00000434359.1:n.510+39C>T
ENST00000527197.5:c.372+39C>T	ENSP00000431960.1:n.372+39C>T
ENST00000527744.5:c.503+39C>T
ENST00000528320.5:n.474C>T
ENST00000528999.5:n.241+39C>T
ENST00000529693.1:n.591+39C>T
ENST00000529999.5:c.570+39C>T	ENSP00000434863.1:n.570+39C>T
ENST00000531897.5:c.570+39C>T	ENSP00000437309.1:n.570+39C>T
ENST00000531951.5:n.670+39C>T
ENST00000532884.1:c.104+39C>T
ENST00000533162.1:c.621+39C>T	ENSP00000433403.1:n.621+39C>T
NM_001136033.2:c.381+39C>T	NP_001129505.1:n.381+39C>T
NM_001271096.1:c.456+39C>T	NP_001258025.1:n.456+39C>T
NM_001271097.1:c.372+39C>T	NP_001258026.1:n.372+39C>T
NM_001271098.1:c.507+39C>T	NP_001258027.1:n.507+39C>T
NM_001271099.1:c.423+39C>T	NP_001258028.1:n.423+39C>T
NM_001271100.1:c.330+39C>T	NP_001258029.1:n.330+39C>T
NM_014281.4:c.459+39C>T	NP_055096.2:n.459+39C>T
NM_078480.2:c.510+39C>T	NP_510965.1:n.510+39C>T
XM_011516929.1:c.621+39C>T	XP_011515231.1:n.621+39C>T
XM_011516930.1:c.570+39C>T	XP_011515232.1:n.570+39C>T
NM_001362895.1:c.621+39C>T	NP_001349824.1:n.621+39C>T
NM_001362896.1:c.621+39C>T	NP_001349825.1:n.621+39C>T
NM_001362897.1:c.570+39C>T	NP_001349826.1:n.570+39C>T
XM_017013234.1:c.621+39C>T	XP_016868723.1:n.621+39C>T
XM_017013235.1:c.585+39C>T	XP_016868724.1:n.585+39C>T
XM_017013236.1:c.570+39C>T	XP_016868725.1:n.570+39C>T
XM_017013239.1:c.381+39C>T	XP_016868728.1:n.381+39C>T
XM_017013240.1:c.330+39C>T	XP_016868729.1:n.330+39C>T
NM_001136033.3:c.381+39C>T	NP_001129505.1:n.381+39C>T
NM_001271096.2:c.456+39C>T	NP_001258025.1:n.456+39C>T
NM_001271097.2:c.372+39C>T	NP_001258026.1:n.372+39C>T
NM_001271098.2:c.507+39C>T	NP_001258027.1:n.507+39C>T
NM_001271099.2:c.423+39C>T	NP_001258028.1:n.423+39C>T
NM_001271100.2:c.330+39C>T	NP_001258029.1:n.330+39C>T
NM_001362895.2:c.621+39C>T	NP_001349824.1:n.621+39C>T
NM_001362896.2:c.621+39C>T	NP_001349825.1:n.621+39C>T
NM_001362897.2:c.570+39C>T	NP_001349826.1:n.570+39C>T
NM_014281.5:c.459+39C>T	NP_055096.2:n.459+39C>T
NM_078480.3:c.510+39C>T MANE Select	NP_510965.1:n.510+39C>T