Canonical Allele Identifier: CA372489117

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143817626G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817626G>T , CM000670.2:g.143817626G>T	GRCh38
NC_000008.9:g.144971784G>T	NCBI36
NG_030583.1:g.2754C>A
NG_033879.1:g.16761C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1672C>A
ENST00000526151.6:n.3029C>A
ENST00000526459.6:c.920C>A	ENSP00000432610.2:p.Ala307Glu
ENST00000527744.6:c.971C>A	ENSP00000436131.2:p.Ala324Glu
ENST00000531951.6:c.845C>A	ENSP00000515500.1:p.Ala282Glu
ENST00000532127.6:c.*819C>A	ENSP00000515484.1:n.*819C>A
ENST00000533162.2:c.1085C>A	ENSP00000433403.2:p.Ala362Glu
ENST00000533362.2:c.1049C>A	ENSP00000515502.1:p.Ala350Glu
ENST00000703744.1:n.1685C>A
ENST00000703803.1:n.1239C>A
ENST00000703846.1:c.845C>A	ENSP00000515498.1:p.Ala282Glu
ENST00000703847.1:c.1085C>A	ENSP00000515499.1:p.Ala362Glu
ENST00000703848.1:n.1005C>A
ENST00000703849.1:c.845C>A	ENSP00000515501.1:p.Ala282Glu
ENST00000703850.1:c.1049C>A	ENSP00000515503.1:p.Ala350Glu
ENST00000703851.1:n.894C>A
ENST00000703866.1:c.974C>A	ENSP00000515511.1:p.Ala325Glu
ENST00000526683.6:c.974C>A MANE Select	ENSP00000434359.1:p.Ala325Glu
ENST00000313352.11:c.794C>A	ENSP00000322016.7:p.Ala265Glu
ENST00000349157.10:c.923C>A	ENSP00000322036.7:p.Ala308Glu
ENST00000453551.6:c.845C>A	ENSP00000402953.2:p.Ala282Glu
ENST00000456095.6:c.887C>A	ENSP00000395417.2:p.Ala296Glu
ENST00000524570.5:n.1660C>A
ENST00000526459.5:c.920C>A	ENSP00000432610.1:p.Ala307Glu
ENST00000526683.5:c.974C>A	ENSP00000434359.1:p.Ala325Glu
ENST00000527197.5:c.836C>A	ENSP00000431960.1:p.Ala279Glu
ENST00000527744.5:c.967C>A
ENST00000532884.1:c.583C>A
NM_001136033.2:c.845C>A	NP_001129505.1:p.Ala282Glu
NM_001271096.1:c.920C>A	NP_001258025.1:p.Ala307Glu
NM_001271097.1:c.836C>A	NP_001258026.1:p.Ala279Glu
NM_001271098.1:c.971C>A	NP_001258027.1:p.Ala324Glu
NM_001271099.1:c.887C>A	NP_001258028.1:p.Ala296Glu
NM_001271100.1:c.794C>A	NP_001258029.1:p.Ala265Glu
NM_014281.4:c.923C>A	NP_055096.2:p.Ala308Glu
NM_078480.2:c.974C>A	NP_510965.1:p.Ala325Glu
XM_011516929.1:c.1085C>A	XP_011515231.1:p.Ala362Glu
XM_011516930.1:c.1034C>A	XP_011515232.1:p.Ala345Glu
NM_001362895.1:c.1085C>A	NP_001349824.1:p.Ala362Glu
NM_001362896.1:c.1085C>A	NP_001349825.1:p.Ala362Glu
NM_001362897.1:c.1034C>A	NP_001349826.1:p.Ala345Glu
XM_017013234.1:c.1085C>A	XP_016868723.1:p.Ala362Glu
XM_017013235.1:c.1049C>A	XP_016868724.1:p.Ala350Glu
XM_017013236.1:c.1034C>A	XP_016868725.1:p.Ala345Glu
XM_017013239.1:c.845C>A	XP_016868728.1:p.Ala282Glu
XM_017013240.1:c.794C>A	XP_016868729.1:p.Ala265Glu
NM_001136033.3:c.845C>A	NP_001129505.1:p.Ala282Glu
NM_001271096.2:c.920C>A	NP_001258025.1:p.Ala307Glu
NM_001271097.2:c.836C>A	NP_001258026.1:p.Ala279Glu
NM_001271098.2:c.971C>A	NP_001258027.1:p.Ala324Glu
NM_001271099.2:c.887C>A	NP_001258028.1:p.Ala296Glu
NM_001271100.2:c.794C>A	NP_001258029.1:p.Ala265Glu
NM_001362895.2:c.1085C>A	NP_001349824.1:p.Ala362Glu
NM_001362896.2:c.1085C>A	NP_001349825.1:p.Ala362Glu
NM_001362897.2:c.1034C>A	NP_001349826.1:p.Ala345Glu
NM_014281.5:c.923C>A	NP_055096.2:p.Ala308Glu
NM_078480.3:c.974C>A MANE Select	NP_510965.1:p.Ala325Glu