Canonical Allele Identifier: CA1825989097

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818211C= , CM000670.2:g.143818211C=	GRCh38
NC_000008.9:g.144972369C=	NCBI36
NG_030583.1:g.2169G=
NG_033879.1:g.16176G=

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1283G=
ENST00000526151.6:n.2640G=
ENST00000526459.6:c.531G=	ENSP00000432610.2:p.Leu177=
ENST00000527744.6:c.582G=	ENSP00000436131.2:p.Leu194=
ENST00000531951.6:c.456G=	ENSP00000515500.1:p.Leu152=
ENST00000532127.6:c.*430G=	ENSP00000515484.1:n.*430G=
ENST00000533162.2:c.696G=	ENSP00000433403.2:p.Leu232=
ENST00000533362.2:c.660G=	ENSP00000515502.1:p.Leu220=
ENST00000703744.1:n.1296G=
ENST00000703803.1:n.733G=
ENST00000703846.1:c.456G=	ENSP00000515498.1:p.Leu152=
ENST00000703847.1:c.696G=	ENSP00000515499.1:p.Leu232=
ENST00000703848.1:n.616G=
ENST00000703849.1:c.456G=	ENSP00000515501.1:p.Leu152=
ENST00000703850.1:c.660G=	ENSP00000515503.1:p.Leu220=
ENST00000703851.1:n.505G=
ENST00000703852.1:c.*508G=	ENSP00000515504.1:n.*508G=
ENST00000703853.1:n.499G=
ENST00000703866.1:c.585G=	ENSP00000515511.1:p.Leu195=
ENST00000526683.6:c.585G= MANE Select	ENSP00000434359.1:p.Leu195=
ENST00000313352.11:c.405G=	ENSP00000322016.7:p.Leu135=
ENST00000349157.10:c.534G=	ENSP00000322036.7:p.Leu178=
ENST00000453551.6:c.456G=	ENSP00000402953.2:p.Leu152=
ENST00000456095.6:c.498G=	ENSP00000395417.2:p.Leu166=
ENST00000524570.5:n.1271G=
ENST00000526459.5:c.531G=	ENSP00000432610.1:p.Leu177=
ENST00000526683.5:c.585G=	ENSP00000434359.1:p.Leu195=
ENST00000527197.5:c.447G=	ENSP00000431960.1:p.Leu149=
ENST00000527744.5:c.578G=
ENST00000528320.5:n.597G=
ENST00000528999.5:n.316G=
ENST00000529693.1:n.666G=
ENST00000529999.5:c.645G=	ENSP00000434863.1:p.Leu215=
ENST00000531897.5:c.645G=	ENSP00000437309.1:p.Leu215=
ENST00000531951.5:n.745G=
ENST00000532884.1:c.179G=
NM_001136033.2:c.456G=	NP_001129505.1:p.Leu152=
NM_001271096.1:c.531G=	NP_001258025.1:p.Leu177=
NM_001271097.1:c.447G=	NP_001258026.1:p.Leu149=
NM_001271098.1:c.582G=	NP_001258027.1:p.Leu194=
NM_001271099.1:c.498G=	NP_001258028.1:p.Leu166=
NM_001271100.1:c.405G=	NP_001258029.1:p.Leu135=
NM_014281.4:c.534G=	NP_055096.2:p.Leu178=
NM_078480.2:c.585G=	NP_510965.1:p.Leu195=
XM_011516929.1:c.696G=	XP_011515231.1:p.Leu232=
XM_011516930.1:c.645G=	XP_011515232.1:p.Leu215=
NM_001362895.1:c.696G=	NP_001349824.1:p.Leu232=
NM_001362896.1:c.696G=	NP_001349825.1:p.Leu232=
NM_001362897.1:c.645G=	NP_001349826.1:p.Leu215=
XM_017013234.1:c.696G=	XP_016868723.1:p.Leu232=
XM_017013235.1:c.660G=	XP_016868724.1:p.Leu220=
XM_017013236.1:c.645G=	XP_016868725.1:p.Leu215=
XM_017013239.1:c.456G=	XP_016868728.1:p.Leu152=
XM_017013240.1:c.405G=	XP_016868729.1:p.Leu135=
NM_001136033.3:c.456G=	NP_001129505.1:p.Leu152=
NM_001271096.2:c.531G=	NP_001258025.1:p.Leu177=
NM_001271097.2:c.447G=	NP_001258026.1:p.Leu149=
NM_001271098.2:c.582G=	NP_001258027.1:p.Leu194=
NM_001271099.2:c.498G=	NP_001258028.1:p.Leu166=
NM_001271100.2:c.405G=	NP_001258029.1:p.Leu135=
NM_001362895.2:c.696G=	NP_001349824.1:p.Leu232=
NM_001362896.2:c.696G=	NP_001349825.1:p.Leu232=
NM_001362897.2:c.645G=	NP_001349826.1:p.Leu215=
NM_014281.5:c.534G=	NP_055096.2:p.Leu178=
NM_078480.3:c.585G= MANE Select	NP_510965.1:p.Leu195=