Canonical Allele Identifier: CA372492537

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818228T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818228T>A , CM000670.2:g.143818228T>A	GRCh38
NC_000008.9:g.144972386T>A	NCBI36
NG_030583.1:g.2152A>T
NG_033879.1:g.16159A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1266A>T
ENST00000526151.6:n.2623A>T
ENST00000526459.6:c.514A>T	ENSP00000432610.2:p.Met172Leu
ENST00000527744.6:c.565A>T	ENSP00000436131.2:p.Met189Leu
ENST00000531951.6:c.439A>T	ENSP00000515500.1:p.Met147Leu
ENST00000532127.6:c.*413A>T	ENSP00000515484.1:n.*413A>T
ENST00000533162.2:c.679A>T	ENSP00000433403.2:p.Met227Leu
ENST00000533362.2:c.643A>T	ENSP00000515502.1:p.Met215Leu
ENST00000703744.1:n.1279A>T
ENST00000703803.1:n.716A>T
ENST00000703846.1:c.439A>T	ENSP00000515498.1:p.Met147Leu
ENST00000703847.1:c.679A>T	ENSP00000515499.1:p.Met227Leu
ENST00000703848.1:n.599A>T
ENST00000703849.1:c.439A>T	ENSP00000515501.1:p.Met147Leu
ENST00000703850.1:c.643A>T	ENSP00000515503.1:p.Met215Leu
ENST00000703851.1:n.488A>T
ENST00000703852.1:c.*491A>T	ENSP00000515504.1:n.*491A>T
ENST00000703853.1:n.482A>T
ENST00000703866.1:c.568A>T	ENSP00000515511.1:p.Met190Leu
ENST00000526683.6:c.568A>T MANE Select	ENSP00000434359.1:p.Met190Leu
ENST00000313352.11:c.388A>T	ENSP00000322016.7:p.Met130Leu
ENST00000349157.10:c.517A>T	ENSP00000322036.7:p.Met173Leu
ENST00000453551.6:c.439A>T	ENSP00000402953.2:p.Met147Leu
ENST00000456095.6:c.481A>T	ENSP00000395417.2:p.Met161Leu
ENST00000524570.5:n.1254A>T
ENST00000526459.5:c.514A>T	ENSP00000432610.1:p.Met172Leu
ENST00000526683.5:c.568A>T	ENSP00000434359.1:p.Met190Leu
ENST00000527197.5:c.430A>T	ENSP00000431960.1:p.Met144Leu
ENST00000527744.5:c.561A>T
ENST00000528320.5:n.580A>T
ENST00000528999.5:n.299A>T
ENST00000529693.1:n.649A>T
ENST00000529999.5:c.628A>T	ENSP00000434863.1:p.Met210Leu
ENST00000531897.5:c.628A>T	ENSP00000437309.1:p.Met210Leu
ENST00000531951.5:n.728A>T
ENST00000532884.1:c.162A>T
ENST00000533162.1:c.679A>T	ENSP00000433403.1:p.Met227Leu
NM_001136033.2:c.439A>T	NP_001129505.1:p.Met147Leu
NM_001271096.1:c.514A>T	NP_001258025.1:p.Met172Leu
NM_001271097.1:c.430A>T	NP_001258026.1:p.Met144Leu
NM_001271098.1:c.565A>T	NP_001258027.1:p.Met189Leu
NM_001271099.1:c.481A>T	NP_001258028.1:p.Met161Leu
NM_001271100.1:c.388A>T	NP_001258029.1:p.Met130Leu
NM_014281.4:c.517A>T	NP_055096.2:p.Met173Leu
NM_078480.2:c.568A>T	NP_510965.1:p.Met190Leu
XM_011516929.1:c.679A>T	XP_011515231.1:p.Met227Leu
XM_011516930.1:c.628A>T	XP_011515232.1:p.Met210Leu
NM_001362895.1:c.679A>T	NP_001349824.1:p.Met227Leu
NM_001362896.1:c.679A>T	NP_001349825.1:p.Met227Leu
NM_001362897.1:c.628A>T	NP_001349826.1:p.Met210Leu
XM_017013234.1:c.679A>T	XP_016868723.1:p.Met227Leu
XM_017013235.1:c.643A>T	XP_016868724.1:p.Met215Leu
XM_017013236.1:c.628A>T	XP_016868725.1:p.Met210Leu
XM_017013239.1:c.439A>T	XP_016868728.1:p.Met147Leu
XM_017013240.1:c.388A>T	XP_016868729.1:p.Met130Leu
NM_001136033.3:c.439A>T	NP_001129505.1:p.Met147Leu
NM_001271096.2:c.514A>T	NP_001258025.1:p.Met172Leu
NM_001271097.2:c.430A>T	NP_001258026.1:p.Met144Leu
NM_001271098.2:c.565A>T	NP_001258027.1:p.Met189Leu
NM_001271099.2:c.481A>T	NP_001258028.1:p.Met161Leu
NM_001271100.2:c.388A>T	NP_001258029.1:p.Met130Leu
NM_001362895.2:c.679A>T	NP_001349824.1:p.Met227Leu
NM_001362896.2:c.679A>T	NP_001349825.1:p.Met227Leu
NM_001362897.2:c.628A>T	NP_001349826.1:p.Met210Leu
NM_014281.5:c.517A>T	NP_055096.2:p.Met173Leu
NM_078480.3:c.568A>T MANE Select	NP_510965.1:p.Met190Leu