Canonical Allele Identifier: CA372487722

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143817106G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817106G>C , CM000670.2:g.143817106G>C	GRCh38
NC_000008.9:g.144971264G>C	NCBI36
NG_030583.1:g.3274C>G
NG_033879.1:g.17281C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1882C>G
ENST00000526151.6:n.3239C>G
ENST00000526459.6:c.1130C>G	ENSP00000432610.2:p.Pro377Arg
ENST00000527744.6:c.1181C>G	ENSP00000436131.2:p.Pro394Arg
ENST00000531951.6:c.1055C>G	ENSP00000515500.1:p.Pro352Arg
ENST00000532127.6:c.*1029C>G	ENSP00000515484.1:n.*1029C>G
ENST00000533162.2:c.1295C>G	ENSP00000433403.2:p.Pro432Arg
ENST00000533362.2:c.1259C>G	ENSP00000515502.1:p.Pro420Arg
ENST00000703744.1:n.1895C>G
ENST00000703803.1:n.1449C>G
ENST00000703846.1:c.1055C>G	ENSP00000515498.1:p.Pro352Arg
ENST00000703847.1:c.1295C>G	ENSP00000515499.1:p.Pro432Arg
ENST00000703848.1:n.1215C>G
ENST00000703849.1:c.1055C>G	ENSP00000515501.1:p.Pro352Arg
ENST00000703850.1:c.1259C>G	ENSP00000515503.1:p.Pro420Arg
ENST00000703851.1:n.1104C>G
ENST00000703866.1:c.1184C>G	ENSP00000515511.1:p.Pro395Arg
ENST00000526683.6:c.1184C>G MANE Select	ENSP00000434359.1:p.Pro395Arg
ENST00000313352.11:c.1004C>G	ENSP00000322016.7:p.Pro335Arg
ENST00000349157.10:c.1133C>G	ENSP00000322036.7:p.Pro378Arg
ENST00000453551.6:c.1055C>G	ENSP00000402953.2:p.Pro352Arg
ENST00000456095.6:c.1097C>G	ENSP00000395417.2:p.Pro366Arg
ENST00000524570.5:n.1870C>G
ENST00000526683.5:c.1184C>G	ENSP00000434359.1:p.Pro395Arg
ENST00000527197.5:c.1046C>G	ENSP00000431960.1:p.Pro349Arg
ENST00000532884.1:c.793C>G
NM_001136033.2:c.1055C>G	NP_001129505.1:p.Pro352Arg
NM_001271096.1:c.1130C>G	NP_001258025.1:p.Pro377Arg
NM_001271097.1:c.1046C>G	NP_001258026.1:p.Pro349Arg
NM_001271098.1:c.1181C>G	NP_001258027.1:p.Pro394Arg
NM_001271099.1:c.1097C>G	NP_001258028.1:p.Pro366Arg
NM_001271100.1:c.1004C>G	NP_001258029.1:p.Pro335Arg
NM_014281.4:c.1133C>G	NP_055096.2:p.Pro378Arg
NM_078480.2:c.1184C>G	NP_510965.1:p.Pro395Arg
XM_011516929.1:c.1295C>G	XP_011515231.1:p.Pro432Arg
XM_011516930.1:c.1244C>G	XP_011515232.1:p.Pro415Arg
NM_001362895.1:c.1295C>G	NP_001349824.1:p.Pro432Arg
NM_001362896.1:c.1295C>G	NP_001349825.1:p.Pro432Arg
NM_001362897.1:c.1244C>G	NP_001349826.1:p.Pro415Arg
XM_017013234.1:c.1295C>G	XP_016868723.1:p.Pro432Arg
XM_017013235.1:c.1259C>G	XP_016868724.1:p.Pro420Arg
XM_017013236.1:c.1244C>G	XP_016868725.1:p.Pro415Arg
XM_017013239.1:c.1055C>G	XP_016868728.1:p.Pro352Arg
XM_017013240.1:c.1004C>G	XP_016868729.1:p.Pro335Arg
NM_001136033.3:c.1055C>G	NP_001129505.1:p.Pro352Arg
NM_001271096.2:c.1130C>G	NP_001258025.1:p.Pro377Arg
NM_001271097.2:c.1046C>G	NP_001258026.1:p.Pro349Arg
NM_001271098.2:c.1181C>G	NP_001258027.1:p.Pro394Arg
NM_001271099.2:c.1097C>G	NP_001258028.1:p.Pro366Arg
NM_001271100.2:c.1004C>G	NP_001258029.1:p.Pro335Arg
NM_001362895.2:c.1295C>G	NP_001349824.1:p.Pro432Arg
NM_001362896.2:c.1295C>G	NP_001349825.1:p.Pro432Arg
NM_001362897.2:c.1244C>G	NP_001349826.1:p.Pro415Arg
NM_014281.5:c.1133C>G	NP_055096.2:p.Pro378Arg
NM_078480.3:c.1184C>G MANE Select	NP_510965.1:p.Pro395Arg