Canonical Allele Identifier: CA372489051

Gene: PUF60

Linked Data

• gnomAD v4: 8-143817612-T-C
• MyVariant Identifiers: chr8:g.143817612T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817612T>C , CM000670.2:g.143817612T>C	GRCh38
NC_000008.9:g.144971770T>C	NCBI36
NG_030583.1:g.2768A>G
NG_033879.1:g.16775A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1686A>G
ENST00000526151.6:n.3043A>G
ENST00000526459.6:c.934A>G	ENSP00000432610.2:p.Thr312Ala
ENST00000527744.6:c.985A>G	ENSP00000436131.2:p.Thr329Ala
ENST00000531951.6:c.859A>G	ENSP00000515500.1:p.Thr287Ala
ENST00000532127.6:c.*833A>G	ENSP00000515484.1:n.*833A>G
ENST00000533162.2:c.1099A>G	ENSP00000433403.2:p.Thr367Ala
ENST00000533362.2:c.1063A>G	ENSP00000515502.1:p.Thr355Ala
ENST00000703744.1:n.1699A>G
ENST00000703803.1:n.1253A>G
ENST00000703846.1:c.859A>G	ENSP00000515498.1:p.Thr287Ala
ENST00000703847.1:c.1099A>G	ENSP00000515499.1:p.Thr367Ala
ENST00000703848.1:n.1019A>G
ENST00000703849.1:c.859A>G	ENSP00000515501.1:p.Thr287Ala
ENST00000703850.1:c.1063A>G	ENSP00000515503.1:p.Thr355Ala
ENST00000703851.1:n.908A>G
ENST00000703866.1:c.988A>G	ENSP00000515511.1:p.Thr330Ala
ENST00000526683.6:c.988A>G MANE Select	ENSP00000434359.1:p.Thr330Ala
ENST00000313352.11:c.808A>G	ENSP00000322016.7:p.Thr270Ala
ENST00000349157.10:c.937A>G	ENSP00000322036.7:p.Thr313Ala
ENST00000453551.6:c.859A>G	ENSP00000402953.2:p.Thr287Ala
ENST00000456095.6:c.901A>G	ENSP00000395417.2:p.Thr301Ala
ENST00000524570.5:n.1674A>G
ENST00000526459.5:c.934A>G	ENSP00000432610.1:p.Thr312Ala
ENST00000526683.5:c.988A>G	ENSP00000434359.1:p.Thr330Ala
ENST00000527197.5:c.850A>G	ENSP00000431960.1:p.Thr284Ala
ENST00000527744.5:c.981A>G
ENST00000532884.1:c.597A>G
NM_001136033.2:c.859A>G	NP_001129505.1:p.Thr287Ala
NM_001271096.1:c.934A>G	NP_001258025.1:p.Thr312Ala
NM_001271097.1:c.850A>G	NP_001258026.1:p.Thr284Ala
NM_001271098.1:c.985A>G	NP_001258027.1:p.Thr329Ala
NM_001271099.1:c.901A>G	NP_001258028.1:p.Thr301Ala
NM_001271100.1:c.808A>G	NP_001258029.1:p.Thr270Ala
NM_014281.4:c.937A>G	NP_055096.2:p.Thr313Ala
NM_078480.2:c.988A>G	NP_510965.1:p.Thr330Ala
XM_011516929.1:c.1099A>G	XP_011515231.1:p.Thr367Ala
XM_011516930.1:c.1048A>G	XP_011515232.1:p.Thr350Ala
NM_001362895.1:c.1099A>G	NP_001349824.1:p.Thr367Ala
NM_001362896.1:c.1099A>G	NP_001349825.1:p.Thr367Ala
NM_001362897.1:c.1048A>G	NP_001349826.1:p.Thr350Ala
XM_017013234.1:c.1099A>G	XP_016868723.1:p.Thr367Ala
XM_017013235.1:c.1063A>G	XP_016868724.1:p.Thr355Ala
XM_017013236.1:c.1048A>G	XP_016868725.1:p.Thr350Ala
XM_017013239.1:c.859A>G	XP_016868728.1:p.Thr287Ala
XM_017013240.1:c.808A>G	XP_016868729.1:p.Thr270Ala
NM_001136033.3:c.859A>G	NP_001129505.1:p.Thr287Ala
NM_001271096.2:c.934A>G	NP_001258025.1:p.Thr312Ala
NM_001271097.2:c.850A>G	NP_001258026.1:p.Thr284Ala
NM_001271098.2:c.985A>G	NP_001258027.1:p.Thr329Ala
NM_001271099.2:c.901A>G	NP_001258028.1:p.Thr301Ala
NM_001271100.2:c.808A>G	NP_001258029.1:p.Thr270Ala
NM_001362895.2:c.1099A>G	NP_001349824.1:p.Thr367Ala
NM_001362896.2:c.1099A>G	NP_001349825.1:p.Thr367Ala
NM_001362897.2:c.1048A>G	NP_001349826.1:p.Thr350Ala
NM_014281.5:c.937A>G	NP_055096.2:p.Thr313Ala
NM_078480.3:c.988A>G MANE Select	NP_510965.1:p.Thr330Ala