Canonical Allele Identifier: CA372492570

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818236A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818236A>G , CM000670.2:g.143818236A>G	GRCh38
NC_000008.9:g.144972394A>G	NCBI36
NG_030583.1:g.2144T>C
NG_033879.1:g.16151T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1258T>C
ENST00000526151.6:n.2615T>C
ENST00000526459.6:c.506T>C	ENSP00000432610.2:p.Leu169Ser
ENST00000527744.6:c.557T>C	ENSP00000436131.2:p.Leu186Ser
ENST00000531951.6:c.431T>C	ENSP00000515500.1:p.Leu144Ser
ENST00000532127.6:c.*405T>C	ENSP00000515484.1:n.*405T>C
ENST00000533162.2:c.671T>C	ENSP00000433403.2:p.Leu224Ser
ENST00000533362.2:c.635T>C	ENSP00000515502.1:p.Leu212Ser
ENST00000703744.1:n.1271T>C
ENST00000703803.1:n.708T>C
ENST00000703846.1:c.431T>C	ENSP00000515498.1:p.Leu144Ser
ENST00000703847.1:c.671T>C	ENSP00000515499.1:p.Leu224Ser
ENST00000703848.1:n.591T>C
ENST00000703849.1:c.431T>C	ENSP00000515501.1:p.Leu144Ser
ENST00000703850.1:c.635T>C	ENSP00000515503.1:p.Leu212Ser
ENST00000703851.1:n.480T>C
ENST00000703852.1:c.*483T>C	ENSP00000515504.1:n.*483T>C
ENST00000703853.1:n.474T>C
ENST00000703866.1:c.560T>C	ENSP00000515511.1:p.Leu187Ser
ENST00000526683.6:c.560T>C MANE Select	ENSP00000434359.1:p.Leu187Ser
ENST00000313352.11:c.380T>C	ENSP00000322016.7:p.Leu127Ser
ENST00000349157.10:c.509T>C	ENSP00000322036.7:p.Leu170Ser
ENST00000453551.6:c.431T>C	ENSP00000402953.2:p.Leu144Ser
ENST00000456095.6:c.473T>C	ENSP00000395417.2:p.Leu158Ser
ENST00000524570.5:n.1246T>C
ENST00000526459.5:c.506T>C	ENSP00000432610.1:p.Leu169Ser
ENST00000526683.5:c.560T>C	ENSP00000434359.1:p.Leu187Ser
ENST00000527197.5:c.422T>C	ENSP00000431960.1:p.Leu141Ser
ENST00000527744.5:c.553T>C
ENST00000528320.5:n.572T>C
ENST00000528999.5:n.291T>C
ENST00000529693.1:n.641T>C
ENST00000529999.5:c.620T>C	ENSP00000434863.1:p.Leu207Ser
ENST00000531897.5:c.620T>C	ENSP00000437309.1:p.Leu207Ser
ENST00000531951.5:n.720T>C
ENST00000532884.1:c.154T>C
ENST00000533162.1:c.671T>C	ENSP00000433403.1:p.Leu224Ser
NM_001136033.2:c.431T>C	NP_001129505.1:p.Leu144Ser
NM_001271096.1:c.506T>C	NP_001258025.1:p.Leu169Ser
NM_001271097.1:c.422T>C	NP_001258026.1:p.Leu141Ser
NM_001271098.1:c.557T>C	NP_001258027.1:p.Leu186Ser
NM_001271099.1:c.473T>C	NP_001258028.1:p.Leu158Ser
NM_001271100.1:c.380T>C	NP_001258029.1:p.Leu127Ser
NM_014281.4:c.509T>C	NP_055096.2:p.Leu170Ser
NM_078480.2:c.560T>C	NP_510965.1:p.Leu187Ser
XM_011516929.1:c.671T>C	XP_011515231.1:p.Leu224Ser
XM_011516930.1:c.620T>C	XP_011515232.1:p.Leu207Ser
NM_001362895.1:c.671T>C	NP_001349824.1:p.Leu224Ser
NM_001362896.1:c.671T>C	NP_001349825.1:p.Leu224Ser
NM_001362897.1:c.620T>C	NP_001349826.1:p.Leu207Ser
XM_017013234.1:c.671T>C	XP_016868723.1:p.Leu224Ser
XM_017013235.1:c.635T>C	XP_016868724.1:p.Leu212Ser
XM_017013236.1:c.620T>C	XP_016868725.1:p.Leu207Ser
XM_017013239.1:c.431T>C	XP_016868728.1:p.Leu144Ser
XM_017013240.1:c.380T>C	XP_016868729.1:p.Leu127Ser
NM_001136033.3:c.431T>C	NP_001129505.1:p.Leu144Ser
NM_001271096.2:c.506T>C	NP_001258025.1:p.Leu169Ser
NM_001271097.2:c.422T>C	NP_001258026.1:p.Leu141Ser
NM_001271098.2:c.557T>C	NP_001258027.1:p.Leu186Ser
NM_001271099.2:c.473T>C	NP_001258028.1:p.Leu158Ser
NM_001271100.2:c.380T>C	NP_001258029.1:p.Leu127Ser
NM_001362895.2:c.671T>C	NP_001349824.1:p.Leu224Ser
NM_001362896.2:c.671T>C	NP_001349825.1:p.Leu224Ser
NM_001362897.2:c.620T>C	NP_001349826.1:p.Leu207Ser
NM_014281.5:c.509T>C	NP_055096.2:p.Leu170Ser
NM_078480.3:c.560T>C MANE Select	NP_510965.1:p.Leu187Ser