Canonical Allele Identifier: CA2832431092

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817598T>G , CM000670.2:g.143817598T>G	GRCh38
NC_000008.9:g.144971756T>G	NCBI36
NG_030583.1:g.2782A>C
NG_033879.1:g.16789A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1700A>C
ENST00000526151.6:n.3057A>C
ENST00000526459.6:c.948A>C	ENSP00000432610.2:p.Thr316=
ENST00000527744.6:c.999A>C	ENSP00000436131.2:p.Thr333=
ENST00000531951.6:c.873A>C	ENSP00000515500.1:p.Thr291=
ENST00000532127.6:c.*847A>C	ENSP00000515484.1:n.*847A>C
ENST00000533162.2:c.1113A>C	ENSP00000433403.2:p.Thr371=
ENST00000533362.2:c.1077A>C	ENSP00000515502.1:p.Thr359=
ENST00000703744.1:n.1713A>C
ENST00000703803.1:n.1267A>C
ENST00000703846.1:c.873A>C	ENSP00000515498.1:p.Thr291=
ENST00000703847.1:c.1113A>C	ENSP00000515499.1:p.Thr371=
ENST00000703848.1:n.1033A>C
ENST00000703849.1:c.873A>C	ENSP00000515501.1:p.Thr291=
ENST00000703850.1:c.1077A>C	ENSP00000515503.1:p.Thr359=
ENST00000703851.1:n.922A>C
ENST00000703866.1:c.1002A>C	ENSP00000515511.1:p.Thr334=
ENST00000526683.6:c.1002A>C MANE Select	ENSP00000434359.1:p.Thr334=
ENST00000313352.11:c.822A>C	ENSP00000322016.7:p.Thr274=
ENST00000349157.10:c.951A>C	ENSP00000322036.7:p.Thr317=
ENST00000453551.6:c.873A>C	ENSP00000402953.2:p.Thr291=
ENST00000456095.6:c.915A>C	ENSP00000395417.2:p.Thr305=
ENST00000524570.5:n.1688A>C
ENST00000526459.5:c.948A>C	ENSP00000432610.1:p.Thr316=
ENST00000526683.5:c.1002A>C	ENSP00000434359.1:p.Thr334=
ENST00000527197.5:c.864A>C	ENSP00000431960.1:p.Thr288=
ENST00000527744.5:c.995A>C
ENST00000532884.1:c.611A>C
NM_001136033.2:c.873A>C	NP_001129505.1:p.Thr291=
NM_001271096.1:c.948A>C	NP_001258025.1:p.Thr316=
NM_001271097.1:c.864A>C	NP_001258026.1:p.Thr288=
NM_001271098.1:c.999A>C	NP_001258027.1:p.Thr333=
NM_001271099.1:c.915A>C	NP_001258028.1:p.Thr305=
NM_001271100.1:c.822A>C	NP_001258029.1:p.Thr274=
NM_014281.4:c.951A>C	NP_055096.2:p.Thr317=
NM_078480.2:c.1002A>C	NP_510965.1:p.Thr334=
XM_011516929.1:c.1113A>C	XP_011515231.1:p.Thr371=
XM_011516930.1:c.1062A>C	XP_011515232.1:p.Thr354=
NM_001362895.1:c.1113A>C	NP_001349824.1:p.Thr371=
NM_001362896.1:c.1113A>C	NP_001349825.1:p.Thr371=
NM_001362897.1:c.1062A>C	NP_001349826.1:p.Thr354=
XM_017013234.1:c.1113A>C	XP_016868723.1:p.Thr371=
XM_017013235.1:c.1077A>C	XP_016868724.1:p.Thr359=
XM_017013236.1:c.1062A>C	XP_016868725.1:p.Thr354=
XM_017013239.1:c.873A>C	XP_016868728.1:p.Thr291=
XM_017013240.1:c.822A>C	XP_016868729.1:p.Thr274=
NM_001136033.3:c.873A>C	NP_001129505.1:p.Thr291=
NM_001271096.2:c.948A>C	NP_001258025.1:p.Thr316=
NM_001271097.2:c.864A>C	NP_001258026.1:p.Thr288=
NM_001271098.2:c.999A>C	NP_001258027.1:p.Thr333=
NM_001271099.2:c.915A>C	NP_001258028.1:p.Thr305=
NM_001271100.2:c.822A>C	NP_001258029.1:p.Thr274=
NM_001362895.2:c.1113A>C	NP_001349824.1:p.Thr371=
NM_001362896.2:c.1113A>C	NP_001349825.1:p.Thr371=
NM_001362897.2:c.1062A>C	NP_001349826.1:p.Thr354=
NM_014281.5:c.951A>C	NP_055096.2:p.Thr317=
NM_078480.3:c.1002A>C MANE Select	NP_510965.1:p.Thr334=