Canonical Allele Identifier: CA372492480

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818215A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818215A>C , CM000670.2:g.143818215A>C	GRCh38
NC_000008.9:g.144972373A>C	NCBI36
NG_030583.1:g.2165T>G
NG_033879.1:g.16172T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1279T>G
ENST00000526151.6:n.2636T>G
ENST00000526459.6:c.527T>G	ENSP00000432610.2:p.Met176Arg
ENST00000527744.6:c.578T>G	ENSP00000436131.2:p.Met193Arg
ENST00000531951.6:c.452T>G	ENSP00000515500.1:p.Met151Arg
ENST00000532127.6:c.*426T>G	ENSP00000515484.1:n.*426T>G
ENST00000533162.2:c.692T>G	ENSP00000433403.2:p.Met231Arg
ENST00000533362.2:c.656T>G	ENSP00000515502.1:p.Met219Arg
ENST00000703744.1:n.1292T>G
ENST00000703803.1:n.729T>G
ENST00000703846.1:c.452T>G	ENSP00000515498.1:p.Met151Arg
ENST00000703847.1:c.692T>G	ENSP00000515499.1:p.Met231Arg
ENST00000703848.1:n.612T>G
ENST00000703849.1:c.452T>G	ENSP00000515501.1:p.Met151Arg
ENST00000703850.1:c.656T>G	ENSP00000515503.1:p.Met219Arg
ENST00000703851.1:n.501T>G
ENST00000703852.1:c.*504T>G	ENSP00000515504.1:n.*504T>G
ENST00000703853.1:n.495T>G
ENST00000703866.1:c.581T>G	ENSP00000515511.1:p.Met194Arg
ENST00000526683.6:c.581T>G MANE Select	ENSP00000434359.1:p.Met194Arg
ENST00000313352.11:c.401T>G	ENSP00000322016.7:p.Met134Arg
ENST00000349157.10:c.530T>G	ENSP00000322036.7:p.Met177Arg
ENST00000453551.6:c.452T>G	ENSP00000402953.2:p.Met151Arg
ENST00000456095.6:c.494T>G	ENSP00000395417.2:p.Met165Arg
ENST00000524570.5:n.1267T>G
ENST00000526459.5:c.527T>G	ENSP00000432610.1:p.Met176Arg
ENST00000526683.5:c.581T>G	ENSP00000434359.1:p.Met194Arg
ENST00000527197.5:c.443T>G	ENSP00000431960.1:p.Met148Arg
ENST00000527744.5:c.574T>G
ENST00000528320.5:n.593T>G
ENST00000528999.5:n.312T>G
ENST00000529693.1:n.662T>G
ENST00000529999.5:c.641T>G	ENSP00000434863.1:p.Met214Arg
ENST00000531897.5:c.641T>G	ENSP00000437309.1:p.Met214Arg
ENST00000531951.5:n.741T>G
ENST00000532884.1:c.175T>G
NM_001136033.2:c.452T>G	NP_001129505.1:p.Met151Arg
NM_001271096.1:c.527T>G	NP_001258025.1:p.Met176Arg
NM_001271097.1:c.443T>G	NP_001258026.1:p.Met148Arg
NM_001271098.1:c.578T>G	NP_001258027.1:p.Met193Arg
NM_001271099.1:c.494T>G	NP_001258028.1:p.Met165Arg
NM_001271100.1:c.401T>G	NP_001258029.1:p.Met134Arg
NM_014281.4:c.530T>G	NP_055096.2:p.Met177Arg
NM_078480.2:c.581T>G	NP_510965.1:p.Met194Arg
XM_011516929.1:c.692T>G	XP_011515231.1:p.Met231Arg
XM_011516930.1:c.641T>G	XP_011515232.1:p.Met214Arg
NM_001362895.1:c.692T>G	NP_001349824.1:p.Met231Arg
NM_001362896.1:c.692T>G	NP_001349825.1:p.Met231Arg
NM_001362897.1:c.641T>G	NP_001349826.1:p.Met214Arg
XM_017013234.1:c.692T>G	XP_016868723.1:p.Met231Arg
XM_017013235.1:c.656T>G	XP_016868724.1:p.Met219Arg
XM_017013236.1:c.641T>G	XP_016868725.1:p.Met214Arg
XM_017013239.1:c.452T>G	XP_016868728.1:p.Met151Arg
XM_017013240.1:c.401T>G	XP_016868729.1:p.Met134Arg
NM_001136033.3:c.452T>G	NP_001129505.1:p.Met151Arg
NM_001271096.2:c.527T>G	NP_001258025.1:p.Met176Arg
NM_001271097.2:c.443T>G	NP_001258026.1:p.Met148Arg
NM_001271098.2:c.578T>G	NP_001258027.1:p.Met193Arg
NM_001271099.2:c.494T>G	NP_001258028.1:p.Met165Arg
NM_001271100.2:c.401T>G	NP_001258029.1:p.Met134Arg
NM_001362895.2:c.692T>G	NP_001349824.1:p.Met231Arg
NM_001362896.2:c.692T>G	NP_001349825.1:p.Met231Arg
NM_001362897.2:c.641T>G	NP_001349826.1:p.Met214Arg
NM_014281.5:c.530T>G	NP_055096.2:p.Met177Arg
NM_078480.3:c.581T>G MANE Select	NP_510965.1:p.Met194Arg