Canonical Allele Identifier: CA372492492

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818218A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818218A>C , CM000670.2:g.143818218A>C	GRCh38
NC_000008.9:g.144972376A>C	NCBI36
NG_030583.1:g.2162T>G
NG_033879.1:g.16169T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1276T>G
ENST00000526151.6:n.2633T>G
ENST00000526459.6:c.524T>G	ENSP00000432610.2:p.Val175Gly
ENST00000527744.6:c.575T>G	ENSP00000436131.2:p.Val192Gly
ENST00000531951.6:c.449T>G	ENSP00000515500.1:p.Val150Gly
ENST00000532127.6:c.*423T>G	ENSP00000515484.1:n.*423T>G
ENST00000533162.2:c.689T>G	ENSP00000433403.2:p.Val230Gly
ENST00000533362.2:c.653T>G	ENSP00000515502.1:p.Val218Gly
ENST00000703744.1:n.1289T>G
ENST00000703803.1:n.726T>G
ENST00000703846.1:c.449T>G	ENSP00000515498.1:p.Val150Gly
ENST00000703847.1:c.689T>G	ENSP00000515499.1:p.Val230Gly
ENST00000703848.1:n.609T>G
ENST00000703849.1:c.449T>G	ENSP00000515501.1:p.Val150Gly
ENST00000703850.1:c.653T>G	ENSP00000515503.1:p.Val218Gly
ENST00000703851.1:n.498T>G
ENST00000703852.1:c.*501T>G	ENSP00000515504.1:n.*501T>G
ENST00000703853.1:n.492T>G
ENST00000703866.1:c.578T>G	ENSP00000515511.1:p.Val193Gly
ENST00000526683.6:c.578T>G MANE Select	ENSP00000434359.1:p.Val193Gly
ENST00000313352.11:c.398T>G	ENSP00000322016.7:p.Val133Gly
ENST00000349157.10:c.527T>G	ENSP00000322036.7:p.Val176Gly
ENST00000453551.6:c.449T>G	ENSP00000402953.2:p.Val150Gly
ENST00000456095.6:c.491T>G	ENSP00000395417.2:p.Val164Gly
ENST00000524570.5:n.1264T>G
ENST00000526459.5:c.524T>G	ENSP00000432610.1:p.Val175Gly
ENST00000526683.5:c.578T>G	ENSP00000434359.1:p.Val193Gly
ENST00000527197.5:c.440T>G	ENSP00000431960.1:p.Val147Gly
ENST00000527744.5:c.571T>G
ENST00000528320.5:n.590T>G
ENST00000528999.5:n.309T>G
ENST00000529693.1:n.659T>G
ENST00000529999.5:c.638T>G	ENSP00000434863.1:p.Val213Gly
ENST00000531897.5:c.638T>G	ENSP00000437309.1:p.Val213Gly
ENST00000531951.5:n.738T>G
ENST00000532884.1:c.172T>G
NM_001136033.2:c.449T>G	NP_001129505.1:p.Val150Gly
NM_001271096.1:c.524T>G	NP_001258025.1:p.Val175Gly
NM_001271097.1:c.440T>G	NP_001258026.1:p.Val147Gly
NM_001271098.1:c.575T>G	NP_001258027.1:p.Val192Gly
NM_001271099.1:c.491T>G	NP_001258028.1:p.Val164Gly
NM_001271100.1:c.398T>G	NP_001258029.1:p.Val133Gly
NM_014281.4:c.527T>G	NP_055096.2:p.Val176Gly
NM_078480.2:c.578T>G	NP_510965.1:p.Val193Gly
XM_011516929.1:c.689T>G	XP_011515231.1:p.Val230Gly
XM_011516930.1:c.638T>G	XP_011515232.1:p.Val213Gly
NM_001362895.1:c.689T>G	NP_001349824.1:p.Val230Gly
NM_001362896.1:c.689T>G	NP_001349825.1:p.Val230Gly
NM_001362897.1:c.638T>G	NP_001349826.1:p.Val213Gly
XM_017013234.1:c.689T>G	XP_016868723.1:p.Val230Gly
XM_017013235.1:c.653T>G	XP_016868724.1:p.Val218Gly
XM_017013236.1:c.638T>G	XP_016868725.1:p.Val213Gly
XM_017013239.1:c.449T>G	XP_016868728.1:p.Val150Gly
XM_017013240.1:c.398T>G	XP_016868729.1:p.Val133Gly
NM_001136033.3:c.449T>G	NP_001129505.1:p.Val150Gly
NM_001271096.2:c.524T>G	NP_001258025.1:p.Val175Gly
NM_001271097.2:c.440T>G	NP_001258026.1:p.Val147Gly
NM_001271098.2:c.575T>G	NP_001258027.1:p.Val192Gly
NM_001271099.2:c.491T>G	NP_001258028.1:p.Val164Gly
NM_001271100.2:c.398T>G	NP_001258029.1:p.Val133Gly
NM_001362895.2:c.689T>G	NP_001349824.1:p.Val230Gly
NM_001362896.2:c.689T>G	NP_001349825.1:p.Val230Gly
NM_001362897.2:c.638T>G	NP_001349826.1:p.Val213Gly
NM_014281.5:c.527T>G	NP_055096.2:p.Val176Gly
NM_078480.3:c.578T>G MANE Select	NP_510965.1:p.Val193Gly