Canonical Allele Identifier: CA372492531

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818227A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818227A>C , CM000670.2:g.143818227A>C	GRCh38
NC_000008.9:g.144972385A>C	NCBI36
NG_030583.1:g.2153T>G
NG_033879.1:g.16160T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1267T>G
ENST00000526151.6:n.2624T>G
ENST00000526459.6:c.515T>G	ENSP00000432610.2:p.Met172Arg
ENST00000527744.6:c.566T>G	ENSP00000436131.2:p.Met189Arg
ENST00000531951.6:c.440T>G	ENSP00000515500.1:p.Met147Arg
ENST00000532127.6:c.*414T>G	ENSP00000515484.1:n.*414T>G
ENST00000533162.2:c.680T>G	ENSP00000433403.2:p.Met227Arg
ENST00000533362.2:c.644T>G	ENSP00000515502.1:p.Met215Arg
ENST00000703744.1:n.1280T>G
ENST00000703803.1:n.717T>G
ENST00000703846.1:c.440T>G	ENSP00000515498.1:p.Met147Arg
ENST00000703847.1:c.680T>G	ENSP00000515499.1:p.Met227Arg
ENST00000703848.1:n.600T>G
ENST00000703849.1:c.440T>G	ENSP00000515501.1:p.Met147Arg
ENST00000703850.1:c.644T>G	ENSP00000515503.1:p.Met215Arg
ENST00000703851.1:n.489T>G
ENST00000703852.1:c.*492T>G	ENSP00000515504.1:n.*492T>G
ENST00000703853.1:n.483T>G
ENST00000703866.1:c.569T>G	ENSP00000515511.1:p.Met190Arg
ENST00000526683.6:c.569T>G MANE Select	ENSP00000434359.1:p.Met190Arg
ENST00000313352.11:c.389T>G	ENSP00000322016.7:p.Met130Arg
ENST00000349157.10:c.518T>G	ENSP00000322036.7:p.Met173Arg
ENST00000453551.6:c.440T>G	ENSP00000402953.2:p.Met147Arg
ENST00000456095.6:c.482T>G	ENSP00000395417.2:p.Met161Arg
ENST00000524570.5:n.1255T>G
ENST00000526459.5:c.515T>G	ENSP00000432610.1:p.Met172Arg
ENST00000526683.5:c.569T>G	ENSP00000434359.1:p.Met190Arg
ENST00000527197.5:c.431T>G	ENSP00000431960.1:p.Met144Arg
ENST00000527744.5:c.562T>G
ENST00000528320.5:n.581T>G
ENST00000528999.5:n.300T>G
ENST00000529693.1:n.650T>G
ENST00000529999.5:c.629T>G	ENSP00000434863.1:p.Met210Arg
ENST00000531897.5:c.629T>G	ENSP00000437309.1:p.Met210Arg
ENST00000531951.5:n.729T>G
ENST00000532884.1:c.163T>G
ENST00000533162.1:c.680T>G	ENSP00000433403.1:p.Met227Arg
NM_001136033.2:c.440T>G	NP_001129505.1:p.Met147Arg
NM_001271096.1:c.515T>G	NP_001258025.1:p.Met172Arg
NM_001271097.1:c.431T>G	NP_001258026.1:p.Met144Arg
NM_001271098.1:c.566T>G	NP_001258027.1:p.Met189Arg
NM_001271099.1:c.482T>G	NP_001258028.1:p.Met161Arg
NM_001271100.1:c.389T>G	NP_001258029.1:p.Met130Arg
NM_014281.4:c.518T>G	NP_055096.2:p.Met173Arg
NM_078480.2:c.569T>G	NP_510965.1:p.Met190Arg
XM_011516929.1:c.680T>G	XP_011515231.1:p.Met227Arg
XM_011516930.1:c.629T>G	XP_011515232.1:p.Met210Arg
NM_001362895.1:c.680T>G	NP_001349824.1:p.Met227Arg
NM_001362896.1:c.680T>G	NP_001349825.1:p.Met227Arg
NM_001362897.1:c.629T>G	NP_001349826.1:p.Met210Arg
XM_017013234.1:c.680T>G	XP_016868723.1:p.Met227Arg
XM_017013235.1:c.644T>G	XP_016868724.1:p.Met215Arg
XM_017013236.1:c.629T>G	XP_016868725.1:p.Met210Arg
XM_017013239.1:c.440T>G	XP_016868728.1:p.Met147Arg
XM_017013240.1:c.389T>G	XP_016868729.1:p.Met130Arg
NM_001136033.3:c.440T>G	NP_001129505.1:p.Met147Arg
NM_001271096.2:c.515T>G	NP_001258025.1:p.Met172Arg
NM_001271097.2:c.431T>G	NP_001258026.1:p.Met144Arg
NM_001271098.2:c.566T>G	NP_001258027.1:p.Met189Arg
NM_001271099.2:c.482T>G	NP_001258028.1:p.Met161Arg
NM_001271100.2:c.389T>G	NP_001258029.1:p.Met130Arg
NM_001362895.2:c.680T>G	NP_001349824.1:p.Met227Arg
NM_001362896.2:c.680T>G	NP_001349825.1:p.Met227Arg
NM_001362897.2:c.629T>G	NP_001349826.1:p.Met210Arg
NM_014281.5:c.518T>G	NP_055096.2:p.Met173Arg
NM_078480.3:c.569T>G MANE Select	NP_510965.1:p.Met190Arg