Canonical Allele Identifier: CA187616477

Gene: PUF60

Linked Data

• dbSNP Id: rs761149048
• gnomAD v3: 8-143818137-C-T
• gnomAD v4: 8-143818137-C-T
• MyVariant Identifiers: chr8:g.143818137C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818137C>T , CM000670.2:g.143818137C>T	GRCh38
NC_000008.9:g.144972295C>T	NCBI36
NG_030583.1:g.2243G>A
NG_033879.1:g.16250G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1301+56G>A
ENST00000526151.6:n.2658+56G>A
ENST00000526459.6:c.549+56G>A	ENSP00000432610.2:n.549+56G>A
ENST00000527744.6:c.600+56G>A	ENSP00000436131.2:n.600+56G>A
ENST00000531951.6:c.474+56G>A	ENSP00000515500.1:n.474+56G>A
ENST00000532127.6:c.*448+56G>A	ENSP00000515484.1:n.*448+56G>A
ENST00000533162.2:c.714+56G>A	ENSP00000433403.2:n.714+56G>A
ENST00000533362.2:c.678+56G>A	ENSP00000515502.1:n.678+56G>A
ENST00000703744.1:n.1314+56G>A
ENST00000703803.1:n.807G>A
ENST00000703846.1:c.474+56G>A	ENSP00000515498.1:n.474+56G>A
ENST00000703847.1:c.714+56G>A	ENSP00000515499.1:n.714+56G>A
ENST00000703848.1:n.634+56G>A
ENST00000703849.1:c.474+56G>A	ENSP00000515501.1:n.474+56G>A
ENST00000703850.1:c.678+56G>A	ENSP00000515503.1:n.678+56G>A
ENST00000703851.1:n.523+56G>A
ENST00000703852.1:c.*526+56G>A	ENSP00000515504.1:n.*526+56G>A
ENST00000703853.1:n.517+56G>A
ENST00000703866.1:c.603+56G>A	ENSP00000515511.1:n.603+56G>A
ENST00000526683.6:c.603+56G>A MANE Select	ENSP00000434359.1:n.603+56G>A
ENST00000313352.11:c.423+56G>A	ENSP00000322016.7:n.423+56G>A
ENST00000349157.10:c.552+56G>A	ENSP00000322036.7:n.552+56G>A
ENST00000453551.6:c.474+56G>A	ENSP00000402953.2:n.474+56G>A
ENST00000456095.6:c.516+56G>A	ENSP00000395417.2:n.516+56G>A
ENST00000524570.5:n.1289+56G>A
ENST00000526459.5:c.549+56G>A	ENSP00000432610.1:n.549+56G>A
ENST00000526683.5:c.603+56G>A	ENSP00000434359.1:n.603+56G>A
ENST00000527197.5:c.465+56G>A	ENSP00000431960.1:n.465+56G>A
ENST00000527744.5:c.596+56G>A
ENST00000528320.5:n.671G>A
ENST00000528999.5:n.334+56G>A
ENST00000529999.5:c.663+56G>A	ENSP00000434863.1:n.663+56G>A
ENST00000531897.5:c.663+56G>A	ENSP00000437309.1:n.663+56G>A
ENST00000531951.5:n.763+56G>A
ENST00000532884.1:c.253G>A
NM_001136033.2:c.474+56G>A	NP_001129505.1:n.474+56G>A
NM_001271096.1:c.549+56G>A	NP_001258025.1:n.549+56G>A
NM_001271097.1:c.465+56G>A	NP_001258026.1:n.465+56G>A
NM_001271098.1:c.600+56G>A	NP_001258027.1:n.600+56G>A
NM_001271099.1:c.516+56G>A	NP_001258028.1:n.516+56G>A
NM_001271100.1:c.423+56G>A	NP_001258029.1:n.423+56G>A
NM_014281.4:c.552+56G>A	NP_055096.2:n.552+56G>A
NM_078480.2:c.603+56G>A	NP_510965.1:n.603+56G>A
XM_011516929.1:c.714+56G>A	XP_011515231.1:n.714+56G>A
XM_011516930.1:c.663+56G>A	XP_011515232.1:n.663+56G>A
NM_001362895.1:c.714+56G>A	NP_001349824.1:n.714+56G>A
NM_001362896.1:c.714+56G>A	NP_001349825.1:n.714+56G>A
NM_001362897.1:c.663+56G>A	NP_001349826.1:n.663+56G>A
XM_017013234.1:c.714+56G>A	XP_016868723.1:n.714+56G>A
XM_017013235.1:c.678+56G>A	XP_016868724.1:n.678+56G>A
XM_017013236.1:c.663+56G>A	XP_016868725.1:n.663+56G>A
XM_017013239.1:c.474+56G>A	XP_016868728.1:n.474+56G>A
XM_017013240.1:c.423+56G>A	XP_016868729.1:n.423+56G>A
NM_001136033.3:c.474+56G>A	NP_001129505.1:n.474+56G>A
NM_001271096.2:c.549+56G>A	NP_001258025.1:n.549+56G>A
NM_001271097.2:c.465+56G>A	NP_001258026.1:n.465+56G>A
NM_001271098.2:c.600+56G>A	NP_001258027.1:n.600+56G>A
NM_001271099.2:c.516+56G>A	NP_001258028.1:n.516+56G>A
NM_001271100.2:c.423+56G>A	NP_001258029.1:n.423+56G>A
NM_001362895.2:c.714+56G>A	NP_001349824.1:n.714+56G>A
NM_001362896.2:c.714+56G>A	NP_001349825.1:n.714+56G>A
NM_001362897.2:c.663+56G>A	NP_001349826.1:n.663+56G>A
NM_014281.5:c.552+56G>A	NP_055096.2:n.552+56G>A
NM_078480.3:c.603+56G>A MANE Select	NP_510965.1:n.603+56G>A