Canonical Allele Identifier: CA372492533

Gene: PUF60

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1267T>A
ENST00000526151.6:n.2624T>A
ENST00000526459.6:c.515T>A	ENSP00000432610.2:p.Met172Lys
ENST00000527744.6:c.566T>A	ENSP00000436131.2:p.Met189Lys
ENST00000531951.6:c.440T>A	ENSP00000515500.1:p.Met147Lys
ENST00000532127.6:c.*414T>A	ENSP00000515484.1:n.*414T>A
ENST00000533162.2:c.680T>A	ENSP00000433403.2:p.Met227Lys
ENST00000533362.2:c.644T>A	ENSP00000515502.1:p.Met215Lys
ENST00000703744.1:n.1280T>A
ENST00000703803.1:n.717T>A
ENST00000703846.1:c.440T>A	ENSP00000515498.1:p.Met147Lys
ENST00000703847.1:c.680T>A	ENSP00000515499.1:p.Met227Lys
ENST00000703848.1:n.600T>A
ENST00000703849.1:c.440T>A	ENSP00000515501.1:p.Met147Lys
ENST00000703850.1:c.644T>A	ENSP00000515503.1:p.Met215Lys
ENST00000703851.1:n.489T>A
ENST00000703852.1:c.*492T>A	ENSP00000515504.1:n.*492T>A
ENST00000703853.1:n.483T>A
ENST00000703866.1:c.569T>A	ENSP00000515511.1:p.Met190Lys
ENST00000526683.6:c.569T>A MANE Select	ENSP00000434359.1:p.Met190Lys
ENST00000313352.11:c.389T>A	ENSP00000322016.7:p.Met130Lys
ENST00000349157.10:c.518T>A	ENSP00000322036.7:p.Met173Lys
ENST00000453551.6:c.440T>A	ENSP00000402953.2:p.Met147Lys
ENST00000456095.6:c.482T>A	ENSP00000395417.2:p.Met161Lys
ENST00000524570.5:n.1255T>A
ENST00000526459.5:c.515T>A	ENSP00000432610.1:p.Met172Lys
ENST00000526683.5:c.569T>A	ENSP00000434359.1:p.Met190Lys
ENST00000527197.5:c.431T>A	ENSP00000431960.1:p.Met144Lys
ENST00000527744.5:c.562T>A
ENST00000528320.5:n.581T>A
ENST00000528999.5:n.300T>A
ENST00000529693.1:n.650T>A
ENST00000529999.5:c.629T>A	ENSP00000434863.1:p.Met210Lys
ENST00000531897.5:c.629T>A	ENSP00000437309.1:p.Met210Lys
ENST00000531951.5:n.729T>A
ENST00000532884.1:c.163T>A
ENST00000533162.1:c.680T>A	ENSP00000433403.1:p.Met227Lys
NM_001136033.2:c.440T>A	NP_001129505.1:p.Met147Lys
NM_001271096.1:c.515T>A	NP_001258025.1:p.Met172Lys
NM_001271097.1:c.431T>A	NP_001258026.1:p.Met144Lys
NM_001271098.1:c.566T>A	NP_001258027.1:p.Met189Lys
NM_001271099.1:c.482T>A	NP_001258028.1:p.Met161Lys
NM_001271100.1:c.389T>A	NP_001258029.1:p.Met130Lys
NM_014281.4:c.518T>A	NP_055096.2:p.Met173Lys
NM_078480.2:c.569T>A	NP_510965.1:p.Met190Lys
XM_011516929.1:c.680T>A	XP_011515231.1:p.Met227Lys
XM_011516930.1:c.629T>A	XP_011515232.1:p.Met210Lys
NM_001362895.1:c.680T>A	NP_001349824.1:p.Met227Lys
NM_001362896.1:c.680T>A	NP_001349825.1:p.Met227Lys
NM_001362897.1:c.629T>A	NP_001349826.1:p.Met210Lys
XM_017013234.1:c.680T>A	XP_016868723.1:p.Met227Lys
XM_017013235.1:c.644T>A	XP_016868724.1:p.Met215Lys
XM_017013236.1:c.629T>A	XP_016868725.1:p.Met210Lys
XM_017013239.1:c.440T>A	XP_016868728.1:p.Met147Lys
XM_017013240.1:c.389T>A	XP_016868729.1:p.Met130Lys
NM_001136033.3:c.440T>A	NP_001129505.1:p.Met147Lys
NM_001271096.2:c.515T>A	NP_001258025.1:p.Met172Lys
NM_001271097.2:c.431T>A	NP_001258026.1:p.Met144Lys
NM_001271098.2:c.566T>A	NP_001258027.1:p.Met189Lys
NM_001271099.2:c.482T>A	NP_001258028.1:p.Met161Lys
NM_001271100.2:c.389T>A	NP_001258029.1:p.Met130Lys
NM_001362895.2:c.680T>A	NP_001349824.1:p.Met227Lys
NM_001362896.2:c.680T>A	NP_001349825.1:p.Met227Lys
NM_001362897.2:c.629T>A	NP_001349826.1:p.Met210Lys
NM_014281.5:c.518T>A	NP_055096.2:p.Met173Lys
NM_078480.3:c.569T>A MANE Select	NP_510965.1:p.Met190Lys