Canonical Allele Identifier: CA372492771

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818282A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818282A>G , CM000670.2:g.143818282A>G	GRCh38
NC_000008.9:g.144972440A>G	NCBI36
NG_030583.1:g.2098T>C
NG_033879.1:g.16105T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1212T>C
ENST00000526151.6:n.2569T>C
ENST00000526459.6:c.460T>C	ENSP00000432610.2:p.Phe154Leu
ENST00000527744.6:c.511T>C	ENSP00000436131.2:p.Phe171Leu
ENST00000531951.6:c.385T>C	ENSP00000515500.1:p.Phe129Leu
ENST00000532127.6:c.*359T>C	ENSP00000515484.1:n.*359T>C
ENST00000533162.2:c.625T>C	ENSP00000433403.2:p.Phe209Leu
ENST00000533362.2:c.589T>C	ENSP00000515502.1:p.Phe197Leu
ENST00000703744.1:n.1225T>C
ENST00000703803.1:n.662T>C
ENST00000703846.1:c.385T>C	ENSP00000515498.1:p.Phe129Leu
ENST00000703847.1:c.625T>C	ENSP00000515499.1:p.Phe209Leu
ENST00000703848.1:n.545T>C
ENST00000703849.1:c.385T>C	ENSP00000515501.1:p.Phe129Leu
ENST00000703850.1:c.589T>C	ENSP00000515503.1:p.Phe197Leu
ENST00000703851.1:n.434T>C
ENST00000703852.1:c.*437T>C	ENSP00000515504.1:n.*437T>C
ENST00000703853.1:n.428T>C
ENST00000703866.1:c.514T>C	ENSP00000515511.1:p.Phe172Leu
ENST00000526683.6:c.514T>C MANE Select	ENSP00000434359.1:p.Phe172Leu
ENST00000313352.11:c.334T>C	ENSP00000322016.7:p.Phe112Leu
ENST00000349157.10:c.463T>C	ENSP00000322036.7:p.Phe155Leu
ENST00000453551.6:c.385T>C	ENSP00000402953.2:p.Phe129Leu
ENST00000456095.6:c.427T>C	ENSP00000395417.2:p.Phe143Leu
ENST00000524570.5:n.1200T>C
ENST00000526459.5:c.460T>C	ENSP00000432610.1:p.Phe154Leu
ENST00000526683.5:c.514T>C	ENSP00000434359.1:p.Phe172Leu
ENST00000527197.5:c.376T>C	ENSP00000431960.1:p.Phe126Leu
ENST00000527744.5:c.507T>C
ENST00000528320.5:n.526T>C
ENST00000528999.5:n.245T>C
ENST00000529693.1:n.595T>C
ENST00000529999.5:c.574T>C	ENSP00000434863.1:p.Phe192Leu
ENST00000531897.5:c.574T>C	ENSP00000437309.1:p.Phe192Leu
ENST00000531951.5:n.674T>C
ENST00000532884.1:c.108T>C
ENST00000533162.1:c.625T>C	ENSP00000433403.1:p.Phe209Leu
NM_001136033.2:c.385T>C	NP_001129505.1:p.Phe129Leu
NM_001271096.1:c.460T>C	NP_001258025.1:p.Phe154Leu
NM_001271097.1:c.376T>C	NP_001258026.1:p.Phe126Leu
NM_001271098.1:c.511T>C	NP_001258027.1:p.Phe171Leu
NM_001271099.1:c.427T>C	NP_001258028.1:p.Phe143Leu
NM_001271100.1:c.334T>C	NP_001258029.1:p.Phe112Leu
NM_014281.4:c.463T>C	NP_055096.2:p.Phe155Leu
NM_078480.2:c.514T>C	NP_510965.1:p.Phe172Leu
XM_011516929.1:c.625T>C	XP_011515231.1:p.Phe209Leu
XM_011516930.1:c.574T>C	XP_011515232.1:p.Phe192Leu
NM_001362895.1:c.625T>C	NP_001349824.1:p.Phe209Leu
NM_001362896.1:c.625T>C	NP_001349825.1:p.Phe209Leu
NM_001362897.1:c.574T>C	NP_001349826.1:p.Phe192Leu
XM_017013234.1:c.625T>C	XP_016868723.1:p.Phe209Leu
XM_017013235.1:c.589T>C	XP_016868724.1:p.Phe197Leu
XM_017013236.1:c.574T>C	XP_016868725.1:p.Phe192Leu
XM_017013239.1:c.385T>C	XP_016868728.1:p.Phe129Leu
XM_017013240.1:c.334T>C	XP_016868729.1:p.Phe112Leu
NM_001136033.3:c.385T>C	NP_001129505.1:p.Phe129Leu
NM_001271096.2:c.460T>C	NP_001258025.1:p.Phe154Leu
NM_001271097.2:c.376T>C	NP_001258026.1:p.Phe126Leu
NM_001271098.2:c.511T>C	NP_001258027.1:p.Phe171Leu
NM_001271099.2:c.427T>C	NP_001258028.1:p.Phe143Leu
NM_001271100.2:c.334T>C	NP_001258029.1:p.Phe112Leu
NM_001362895.2:c.625T>C	NP_001349824.1:p.Phe209Leu
NM_001362896.2:c.625T>C	NP_001349825.1:p.Phe209Leu
NM_001362897.2:c.574T>C	NP_001349826.1:p.Phe192Leu
NM_014281.5:c.463T>C	NP_055096.2:p.Phe155Leu
NM_078480.3:c.514T>C MANE Select	NP_510965.1:p.Phe172Leu