Canonical Allele Identifier: CA372492488

Gene: PUF60

Linked Data

• gnomAD v4: 8-143818216-T-C
• MyVariant Identifiers: chr8:g.143818216T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818216T>C , CM000670.2:g.143818216T>C	GRCh38
NC_000008.9:g.144972374T>C	NCBI36
NG_030583.1:g.2164A>G
NG_033879.1:g.16171A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1278A>G
ENST00000526151.6:n.2635A>G
ENST00000526459.6:c.526A>G	ENSP00000432610.2:p.Met176Val
ENST00000527744.6:c.577A>G	ENSP00000436131.2:p.Met193Val
ENST00000531951.6:c.451A>G	ENSP00000515500.1:p.Met151Val
ENST00000532127.6:c.*425A>G	ENSP00000515484.1:n.*425A>G
ENST00000533162.2:c.691A>G	ENSP00000433403.2:p.Met231Val
ENST00000533362.2:c.655A>G	ENSP00000515502.1:p.Met219Val
ENST00000703744.1:n.1291A>G
ENST00000703803.1:n.728A>G
ENST00000703846.1:c.451A>G	ENSP00000515498.1:p.Met151Val
ENST00000703847.1:c.691A>G	ENSP00000515499.1:p.Met231Val
ENST00000703848.1:n.611A>G
ENST00000703849.1:c.451A>G	ENSP00000515501.1:p.Met151Val
ENST00000703850.1:c.655A>G	ENSP00000515503.1:p.Met219Val
ENST00000703851.1:n.500A>G
ENST00000703852.1:c.*503A>G	ENSP00000515504.1:n.*503A>G
ENST00000703853.1:n.494A>G
ENST00000703866.1:c.580A>G	ENSP00000515511.1:p.Met194Val
ENST00000526683.6:c.580A>G MANE Select	ENSP00000434359.1:p.Met194Val
ENST00000313352.11:c.400A>G	ENSP00000322016.7:p.Met134Val
ENST00000349157.10:c.529A>G	ENSP00000322036.7:p.Met177Val
ENST00000453551.6:c.451A>G	ENSP00000402953.2:p.Met151Val
ENST00000456095.6:c.493A>G	ENSP00000395417.2:p.Met165Val
ENST00000524570.5:n.1266A>G
ENST00000526459.5:c.526A>G	ENSP00000432610.1:p.Met176Val
ENST00000526683.5:c.580A>G	ENSP00000434359.1:p.Met194Val
ENST00000527197.5:c.442A>G	ENSP00000431960.1:p.Met148Val
ENST00000527744.5:c.573A>G
ENST00000528320.5:n.592A>G
ENST00000528999.5:n.311A>G
ENST00000529693.1:n.661A>G
ENST00000529999.5:c.640A>G	ENSP00000434863.1:p.Met214Val
ENST00000531897.5:c.640A>G	ENSP00000437309.1:p.Met214Val
ENST00000531951.5:n.740A>G
ENST00000532884.1:c.174A>G
NM_001136033.2:c.451A>G	NP_001129505.1:p.Met151Val
NM_001271096.1:c.526A>G	NP_001258025.1:p.Met176Val
NM_001271097.1:c.442A>G	NP_001258026.1:p.Met148Val
NM_001271098.1:c.577A>G	NP_001258027.1:p.Met193Val
NM_001271099.1:c.493A>G	NP_001258028.1:p.Met165Val
NM_001271100.1:c.400A>G	NP_001258029.1:p.Met134Val
NM_014281.4:c.529A>G	NP_055096.2:p.Met177Val
NM_078480.2:c.580A>G	NP_510965.1:p.Met194Val
XM_011516929.1:c.691A>G	XP_011515231.1:p.Met231Val
XM_011516930.1:c.640A>G	XP_011515232.1:p.Met214Val
NM_001362895.1:c.691A>G	NP_001349824.1:p.Met231Val
NM_001362896.1:c.691A>G	NP_001349825.1:p.Met231Val
NM_001362897.1:c.640A>G	NP_001349826.1:p.Met214Val
XM_017013234.1:c.691A>G	XP_016868723.1:p.Met231Val
XM_017013235.1:c.655A>G	XP_016868724.1:p.Met219Val
XM_017013236.1:c.640A>G	XP_016868725.1:p.Met214Val
XM_017013239.1:c.451A>G	XP_016868728.1:p.Met151Val
XM_017013240.1:c.400A>G	XP_016868729.1:p.Met134Val
NM_001136033.3:c.451A>G	NP_001129505.1:p.Met151Val
NM_001271096.2:c.526A>G	NP_001258025.1:p.Met176Val
NM_001271097.2:c.442A>G	NP_001258026.1:p.Met148Val
NM_001271098.2:c.577A>G	NP_001258027.1:p.Met193Val
NM_001271099.2:c.493A>G	NP_001258028.1:p.Met165Val
NM_001271100.2:c.400A>G	NP_001258029.1:p.Met134Val
NM_001362895.2:c.691A>G	NP_001349824.1:p.Met231Val
NM_001362896.2:c.691A>G	NP_001349825.1:p.Met231Val
NM_001362897.2:c.640A>G	NP_001349826.1:p.Met214Val
NM_014281.5:c.529A>G	NP_055096.2:p.Met177Val
NM_078480.3:c.580A>G MANE Select	NP_510965.1:p.Met194Val