Canonical Allele Identifier: CA372492498

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818219C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818219C>A , CM000670.2:g.143818219C>A	GRCh38
NC_000008.9:g.144972377C>A	NCBI36
NG_030583.1:g.2161G>T
NG_033879.1:g.16168G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1275G>T
ENST00000526151.6:n.2632G>T
ENST00000526459.6:c.523G>T	ENSP00000432610.2:p.Val175Leu
ENST00000527744.6:c.574G>T	ENSP00000436131.2:p.Val192Leu
ENST00000531951.6:c.448G>T	ENSP00000515500.1:p.Val150Leu
ENST00000532127.6:c.*422G>T	ENSP00000515484.1:n.*422G>T
ENST00000533162.2:c.688G>T	ENSP00000433403.2:p.Val230Leu
ENST00000533362.2:c.652G>T	ENSP00000515502.1:p.Val218Leu
ENST00000703744.1:n.1288G>T
ENST00000703803.1:n.725G>T
ENST00000703846.1:c.448G>T	ENSP00000515498.1:p.Val150Leu
ENST00000703847.1:c.688G>T	ENSP00000515499.1:p.Val230Leu
ENST00000703848.1:n.608G>T
ENST00000703849.1:c.448G>T	ENSP00000515501.1:p.Val150Leu
ENST00000703850.1:c.652G>T	ENSP00000515503.1:p.Val218Leu
ENST00000703851.1:n.497G>T
ENST00000703852.1:c.*500G>T	ENSP00000515504.1:n.*500G>T
ENST00000703853.1:n.491G>T
ENST00000703866.1:c.577G>T	ENSP00000515511.1:p.Val193Leu
ENST00000526683.6:c.577G>T MANE Select	ENSP00000434359.1:p.Val193Leu
ENST00000313352.11:c.397G>T	ENSP00000322016.7:p.Val133Leu
ENST00000349157.10:c.526G>T	ENSP00000322036.7:p.Val176Leu
ENST00000453551.6:c.448G>T	ENSP00000402953.2:p.Val150Leu
ENST00000456095.6:c.490G>T	ENSP00000395417.2:p.Val164Leu
ENST00000524570.5:n.1263G>T
ENST00000526459.5:c.523G>T	ENSP00000432610.1:p.Val175Leu
ENST00000526683.5:c.577G>T	ENSP00000434359.1:p.Val193Leu
ENST00000527197.5:c.439G>T	ENSP00000431960.1:p.Val147Leu
ENST00000527744.5:c.570G>T
ENST00000528320.5:n.589G>T
ENST00000528999.5:n.308G>T
ENST00000529693.1:n.658G>T
ENST00000529999.5:c.637G>T	ENSP00000434863.1:p.Val213Leu
ENST00000531897.5:c.637G>T	ENSP00000437309.1:p.Val213Leu
ENST00000531951.5:n.737G>T
ENST00000532884.1:c.171G>T
NM_001136033.2:c.448G>T	NP_001129505.1:p.Val150Leu
NM_001271096.1:c.523G>T	NP_001258025.1:p.Val175Leu
NM_001271097.1:c.439G>T	NP_001258026.1:p.Val147Leu
NM_001271098.1:c.574G>T	NP_001258027.1:p.Val192Leu
NM_001271099.1:c.490G>T	NP_001258028.1:p.Val164Leu
NM_001271100.1:c.397G>T	NP_001258029.1:p.Val133Leu
NM_014281.4:c.526G>T	NP_055096.2:p.Val176Leu
NM_078480.2:c.577G>T	NP_510965.1:p.Val193Leu
XM_011516929.1:c.688G>T	XP_011515231.1:p.Val230Leu
XM_011516930.1:c.637G>T	XP_011515232.1:p.Val213Leu
NM_001362895.1:c.688G>T	NP_001349824.1:p.Val230Leu
NM_001362896.1:c.688G>T	NP_001349825.1:p.Val230Leu
NM_001362897.1:c.637G>T	NP_001349826.1:p.Val213Leu
XM_017013234.1:c.688G>T	XP_016868723.1:p.Val230Leu
XM_017013235.1:c.652G>T	XP_016868724.1:p.Val218Leu
XM_017013236.1:c.637G>T	XP_016868725.1:p.Val213Leu
XM_017013239.1:c.448G>T	XP_016868728.1:p.Val150Leu
XM_017013240.1:c.397G>T	XP_016868729.1:p.Val133Leu
NM_001136033.3:c.448G>T	NP_001129505.1:p.Val150Leu
NM_001271096.2:c.523G>T	NP_001258025.1:p.Val175Leu
NM_001271097.2:c.439G>T	NP_001258026.1:p.Val147Leu
NM_001271098.2:c.574G>T	NP_001258027.1:p.Val192Leu
NM_001271099.2:c.490G>T	NP_001258028.1:p.Val164Leu
NM_001271100.2:c.397G>T	NP_001258029.1:p.Val133Leu
NM_001362895.2:c.688G>T	NP_001349824.1:p.Val230Leu
NM_001362896.2:c.688G>T	NP_001349825.1:p.Val230Leu
NM_001362897.2:c.637G>T	NP_001349826.1:p.Val213Leu
NM_014281.5:c.526G>T	NP_055096.2:p.Val176Leu
NM_078480.3:c.577G>T MANE Select	NP_510965.1:p.Val193Leu