Canonical Allele Identifier: CA372492527

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818226C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818226C>G , CM000670.2:g.143818226C>G	GRCh38
NC_000008.9:g.144972384C>G	NCBI36
NG_030583.1:g.2154G>C
NG_033879.1:g.16161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1268G>C
ENST00000526151.6:n.2625G>C
ENST00000526459.6:c.516G>C	ENSP00000432610.2:p.Met172Ile
ENST00000527744.6:c.567G>C	ENSP00000436131.2:p.Met189Ile
ENST00000531951.6:c.441G>C	ENSP00000515500.1:p.Met147Ile
ENST00000532127.6:c.*415G>C	ENSP00000515484.1:n.*415G>C
ENST00000533162.2:c.681G>C	ENSP00000433403.2:p.Met227Ile
ENST00000533362.2:c.645G>C	ENSP00000515502.1:p.Met215Ile
ENST00000703744.1:n.1281G>C
ENST00000703803.1:n.718G>C
ENST00000703846.1:c.441G>C	ENSP00000515498.1:p.Met147Ile
ENST00000703847.1:c.681G>C	ENSP00000515499.1:p.Met227Ile
ENST00000703848.1:n.601G>C
ENST00000703849.1:c.441G>C	ENSP00000515501.1:p.Met147Ile
ENST00000703850.1:c.645G>C	ENSP00000515503.1:p.Met215Ile
ENST00000703851.1:n.490G>C
ENST00000703852.1:c.*493G>C	ENSP00000515504.1:n.*493G>C
ENST00000703853.1:n.484G>C
ENST00000703866.1:c.570G>C	ENSP00000515511.1:p.Met190Ile
ENST00000526683.6:c.570G>C MANE Select	ENSP00000434359.1:p.Met190Ile
ENST00000313352.11:c.390G>C	ENSP00000322016.7:p.Met130Ile
ENST00000349157.10:c.519G>C	ENSP00000322036.7:p.Met173Ile
ENST00000453551.6:c.441G>C	ENSP00000402953.2:p.Met147Ile
ENST00000456095.6:c.483G>C	ENSP00000395417.2:p.Met161Ile
ENST00000524570.5:n.1256G>C
ENST00000526459.5:c.516G>C	ENSP00000432610.1:p.Met172Ile
ENST00000526683.5:c.570G>C	ENSP00000434359.1:p.Met190Ile
ENST00000527197.5:c.432G>C	ENSP00000431960.1:p.Met144Ile
ENST00000527744.5:c.563G>C
ENST00000528320.5:n.582G>C
ENST00000528999.5:n.301G>C
ENST00000529693.1:n.651G>C
ENST00000529999.5:c.630G>C	ENSP00000434863.1:p.Met210Ile
ENST00000531897.5:c.630G>C	ENSP00000437309.1:p.Met210Ile
ENST00000531951.5:n.730G>C
ENST00000532884.1:c.164G>C
ENST00000533162.1:c.681G>C	ENSP00000433403.1:p.Met227Ile
NM_001136033.2:c.441G>C	NP_001129505.1:p.Met147Ile
NM_001271096.1:c.516G>C	NP_001258025.1:p.Met172Ile
NM_001271097.1:c.432G>C	NP_001258026.1:p.Met144Ile
NM_001271098.1:c.567G>C	NP_001258027.1:p.Met189Ile
NM_001271099.1:c.483G>C	NP_001258028.1:p.Met161Ile
NM_001271100.1:c.390G>C	NP_001258029.1:p.Met130Ile
NM_014281.4:c.519G>C	NP_055096.2:p.Met173Ile
NM_078480.2:c.570G>C	NP_510965.1:p.Met190Ile
XM_011516929.1:c.681G>C	XP_011515231.1:p.Met227Ile
XM_011516930.1:c.630G>C	XP_011515232.1:p.Met210Ile
NM_001362895.1:c.681G>C	NP_001349824.1:p.Met227Ile
NM_001362896.1:c.681G>C	NP_001349825.1:p.Met227Ile
NM_001362897.1:c.630G>C	NP_001349826.1:p.Met210Ile
XM_017013234.1:c.681G>C	XP_016868723.1:p.Met227Ile
XM_017013235.1:c.645G>C	XP_016868724.1:p.Met215Ile
XM_017013236.1:c.630G>C	XP_016868725.1:p.Met210Ile
XM_017013239.1:c.441G>C	XP_016868728.1:p.Met147Ile
XM_017013240.1:c.390G>C	XP_016868729.1:p.Met130Ile
NM_001136033.3:c.441G>C	NP_001129505.1:p.Met147Ile
NM_001271096.2:c.516G>C	NP_001258025.1:p.Met172Ile
NM_001271097.2:c.432G>C	NP_001258026.1:p.Met144Ile
NM_001271098.2:c.567G>C	NP_001258027.1:p.Met189Ile
NM_001271099.2:c.483G>C	NP_001258028.1:p.Met161Ile
NM_001271100.2:c.390G>C	NP_001258029.1:p.Met130Ile
NM_001362895.2:c.681G>C	NP_001349824.1:p.Met227Ile
NM_001362896.2:c.681G>C	NP_001349825.1:p.Met227Ile
NM_001362897.2:c.630G>C	NP_001349826.1:p.Met210Ile
NM_014281.5:c.519G>C	NP_055096.2:p.Met173Ile
NM_078480.3:c.570G>C MANE Select	NP_510965.1:p.Met190Ile