Canonical Allele Identifier: CA372489419

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143817690T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817690T>A , CM000670.2:g.143817690T>A	GRCh38
NC_000008.9:g.144971848T>A	NCBI36
NG_030583.1:g.2690A>T
NG_033879.1:g.16697A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1608A>T
ENST00000526151.6:n.2965A>T
ENST00000526459.6:c.856A>T	ENSP00000432610.2:p.Thr286Ser
ENST00000527744.6:c.907A>T	ENSP00000436131.2:p.Thr303Ser
ENST00000531951.6:c.781A>T	ENSP00000515500.1:p.Thr261Ser
ENST00000532127.6:c.*755A>T	ENSP00000515484.1:n.*755A>T
ENST00000533162.2:c.1021A>T	ENSP00000433403.2:p.Thr341Ser
ENST00000533362.2:c.985A>T	ENSP00000515502.1:p.Thr329Ser
ENST00000703744.1:n.1621A>T
ENST00000703803.1:n.1175A>T
ENST00000703846.1:c.781A>T	ENSP00000515498.1:p.Thr261Ser
ENST00000703847.1:c.1021A>T	ENSP00000515499.1:p.Thr341Ser
ENST00000703848.1:n.941A>T
ENST00000703849.1:c.781A>T	ENSP00000515501.1:p.Thr261Ser
ENST00000703850.1:c.985A>T	ENSP00000515503.1:p.Thr329Ser
ENST00000703851.1:n.830A>T
ENST00000703866.1:c.910A>T	ENSP00000515511.1:p.Thr304Ser
ENST00000526683.6:c.910A>T MANE Select	ENSP00000434359.1:p.Thr304Ser
ENST00000313352.11:c.730A>T	ENSP00000322016.7:p.Thr244Ser
ENST00000349157.10:c.859A>T	ENSP00000322036.7:p.Thr287Ser
ENST00000453551.6:c.781A>T	ENSP00000402953.2:p.Thr261Ser
ENST00000456095.6:c.823A>T	ENSP00000395417.2:p.Thr275Ser
ENST00000524570.5:n.1596A>T
ENST00000526459.5:c.856A>T	ENSP00000432610.1:p.Thr286Ser
ENST00000526683.5:c.910A>T	ENSP00000434359.1:p.Thr304Ser
ENST00000527197.5:c.772A>T	ENSP00000431960.1:p.Thr258Ser
ENST00000527744.5:c.903A>T
ENST00000532884.1:c.519A>T
NM_001136033.2:c.781A>T	NP_001129505.1:p.Thr261Ser
NM_001271096.1:c.856A>T	NP_001258025.1:p.Thr286Ser
NM_001271097.1:c.772A>T	NP_001258026.1:p.Thr258Ser
NM_001271098.1:c.907A>T	NP_001258027.1:p.Thr303Ser
NM_001271099.1:c.823A>T	NP_001258028.1:p.Thr275Ser
NM_001271100.1:c.730A>T	NP_001258029.1:p.Thr244Ser
NM_014281.4:c.859A>T	NP_055096.2:p.Thr287Ser
NM_078480.2:c.910A>T	NP_510965.1:p.Thr304Ser
XM_011516929.1:c.1021A>T	XP_011515231.1:p.Thr341Ser
XM_011516930.1:c.970A>T	XP_011515232.1:p.Thr324Ser
NM_001362895.1:c.1021A>T	NP_001349824.1:p.Thr341Ser
NM_001362896.1:c.1021A>T	NP_001349825.1:p.Thr341Ser
NM_001362897.1:c.970A>T	NP_001349826.1:p.Thr324Ser
XM_017013234.1:c.1021A>T	XP_016868723.1:p.Thr341Ser
XM_017013235.1:c.985A>T	XP_016868724.1:p.Thr329Ser
XM_017013236.1:c.970A>T	XP_016868725.1:p.Thr324Ser
XM_017013239.1:c.781A>T	XP_016868728.1:p.Thr261Ser
XM_017013240.1:c.730A>T	XP_016868729.1:p.Thr244Ser
NM_001136033.3:c.781A>T	NP_001129505.1:p.Thr261Ser
NM_001271096.2:c.856A>T	NP_001258025.1:p.Thr286Ser
NM_001271097.2:c.772A>T	NP_001258026.1:p.Thr258Ser
NM_001271098.2:c.907A>T	NP_001258027.1:p.Thr303Ser
NM_001271099.2:c.823A>T	NP_001258028.1:p.Thr275Ser
NM_001271100.2:c.730A>T	NP_001258029.1:p.Thr244Ser
NM_001362895.2:c.1021A>T	NP_001349824.1:p.Thr341Ser
NM_001362896.2:c.1021A>T	NP_001349825.1:p.Thr341Ser
NM_001362897.2:c.970A>T	NP_001349826.1:p.Thr324Ser
NM_014281.5:c.859A>T	NP_055096.2:p.Thr287Ser
NM_078480.3:c.910A>T MANE Select	NP_510965.1:p.Thr304Ser