Canonical Allele Identifier: CA372492676

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818262C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818262C>A , CM000670.2:g.143818262C>A	GRCh38
NC_000008.9:g.144972420C>A	NCBI36
NG_030583.1:g.2118G>T
NG_033879.1:g.16125G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1232G>T
ENST00000526151.6:n.2589G>T
ENST00000526459.6:c.480G>T	ENSP00000432610.2:p.Glu160Asp
ENST00000527744.6:c.531G>T	ENSP00000436131.2:p.Glu177Asp
ENST00000531951.6:c.405G>T	ENSP00000515500.1:p.Glu135Asp
ENST00000532127.6:c.*379G>T	ENSP00000515484.1:n.*379G>T
ENST00000533162.2:c.645G>T	ENSP00000433403.2:p.Glu215Asp
ENST00000533362.2:c.609G>T	ENSP00000515502.1:p.Glu203Asp
ENST00000703744.1:n.1245G>T
ENST00000703803.1:n.682G>T
ENST00000703846.1:c.405G>T	ENSP00000515498.1:p.Glu135Asp
ENST00000703847.1:c.645G>T	ENSP00000515499.1:p.Glu215Asp
ENST00000703848.1:n.565G>T
ENST00000703849.1:c.405G>T	ENSP00000515501.1:p.Glu135Asp
ENST00000703850.1:c.609G>T	ENSP00000515503.1:p.Glu203Asp
ENST00000703851.1:n.454G>T
ENST00000703852.1:c.*457G>T	ENSP00000515504.1:n.*457G>T
ENST00000703853.1:n.448G>T
ENST00000703866.1:c.534G>T	ENSP00000515511.1:p.Glu178Asp
ENST00000526683.6:c.534G>T MANE Select	ENSP00000434359.1:p.Glu178Asp
ENST00000313352.11:c.354G>T	ENSP00000322016.7:p.Glu118Asp
ENST00000349157.10:c.483G>T	ENSP00000322036.7:p.Glu161Asp
ENST00000453551.6:c.405G>T	ENSP00000402953.2:p.Glu135Asp
ENST00000456095.6:c.447G>T	ENSP00000395417.2:p.Glu149Asp
ENST00000524570.5:n.1220G>T
ENST00000526459.5:c.480G>T	ENSP00000432610.1:p.Glu160Asp
ENST00000526683.5:c.534G>T	ENSP00000434359.1:p.Glu178Asp
ENST00000527197.5:c.396G>T	ENSP00000431960.1:p.Glu132Asp
ENST00000527744.5:c.527G>T
ENST00000528320.5:n.546G>T
ENST00000528999.5:n.265G>T
ENST00000529693.1:n.615G>T
ENST00000529999.5:c.594G>T	ENSP00000434863.1:p.Glu198Asp
ENST00000531897.5:c.594G>T	ENSP00000437309.1:p.Glu198Asp
ENST00000531951.5:n.694G>T
ENST00000532884.1:c.128G>T
ENST00000533162.1:c.645G>T	ENSP00000433403.1:p.Glu215Asp
NM_001136033.2:c.405G>T	NP_001129505.1:p.Glu135Asp
NM_001271096.1:c.480G>T	NP_001258025.1:p.Glu160Asp
NM_001271097.1:c.396G>T	NP_001258026.1:p.Glu132Asp
NM_001271098.1:c.531G>T	NP_001258027.1:p.Glu177Asp
NM_001271099.1:c.447G>T	NP_001258028.1:p.Glu149Asp
NM_001271100.1:c.354G>T	NP_001258029.1:p.Glu118Asp
NM_014281.4:c.483G>T	NP_055096.2:p.Glu161Asp
NM_078480.2:c.534G>T	NP_510965.1:p.Glu178Asp
XM_011516929.1:c.645G>T	XP_011515231.1:p.Glu215Asp
XM_011516930.1:c.594G>T	XP_011515232.1:p.Glu198Asp
NM_001362895.1:c.645G>T	NP_001349824.1:p.Glu215Asp
NM_001362896.1:c.645G>T	NP_001349825.1:p.Glu215Asp
NM_001362897.1:c.594G>T	NP_001349826.1:p.Glu198Asp
XM_017013234.1:c.645G>T	XP_016868723.1:p.Glu215Asp
XM_017013235.1:c.609G>T	XP_016868724.1:p.Glu203Asp
XM_017013236.1:c.594G>T	XP_016868725.1:p.Glu198Asp
XM_017013239.1:c.405G>T	XP_016868728.1:p.Glu135Asp
XM_017013240.1:c.354G>T	XP_016868729.1:p.Glu118Asp
NM_001136033.3:c.405G>T	NP_001129505.1:p.Glu135Asp
NM_001271096.2:c.480G>T	NP_001258025.1:p.Glu160Asp
NM_001271097.2:c.396G>T	NP_001258026.1:p.Glu132Asp
NM_001271098.2:c.531G>T	NP_001258027.1:p.Glu177Asp
NM_001271099.2:c.447G>T	NP_001258028.1:p.Glu149Asp
NM_001271100.2:c.354G>T	NP_001258029.1:p.Glu118Asp
NM_001362895.2:c.645G>T	NP_001349824.1:p.Glu215Asp
NM_001362896.2:c.645G>T	NP_001349825.1:p.Glu215Asp
NM_001362897.2:c.594G>T	NP_001349826.1:p.Glu198Asp
NM_014281.5:c.483G>T	NP_055096.2:p.Glu161Asp
NM_078480.3:c.534G>T MANE Select	NP_510965.1:p.Glu178Asp