Canonical Allele Identifier: CA187616256

Gene: PUF60

Linked Data

• dbSNP Id: rs771715172
• gnomAD v3: 8-143817703-C-T
• gnomAD v4: 8-143817703-C-T
• MyVariant Identifiers: chr8:g.143817703C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817703C>T , CM000670.2:g.143817703C>T	GRCh38
NC_000008.9:g.144971861C>T	NCBI36
NG_030583.1:g.2677G>A
NG_033879.1:g.16684G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1595G>A
ENST00000526151.6:n.2952G>A
ENST00000526459.6:c.843G>A	ENSP00000432610.2:p.Val281=
ENST00000527744.6:c.894G>A	ENSP00000436131.2:p.Val298=
ENST00000531951.6:c.768G>A	ENSP00000515500.1:p.Val256=
ENST00000532127.6:c.*742G>A	ENSP00000515484.1:n.*742G>A
ENST00000533162.2:c.1008G>A	ENSP00000433403.2:p.Val336=
ENST00000533362.2:c.972G>A	ENSP00000515502.1:p.Val324=
ENST00000703744.1:n.1608G>A
ENST00000703803.1:n.1162G>A
ENST00000703846.1:c.768G>A	ENSP00000515498.1:p.Val256=
ENST00000703847.1:c.1008G>A	ENSP00000515499.1:p.Val336=
ENST00000703848.1:n.928G>A
ENST00000703849.1:c.768G>A	ENSP00000515501.1:p.Val256=
ENST00000703850.1:c.972G>A	ENSP00000515503.1:p.Val324=
ENST00000703851.1:n.817G>A
ENST00000703866.1:c.897G>A	ENSP00000515511.1:p.Val299=
ENST00000526683.6:c.897G>A MANE Select	ENSP00000434359.1:p.Val299=
ENST00000313352.11:c.717G>A	ENSP00000322016.7:p.Val239=
ENST00000349157.10:c.846G>A	ENSP00000322036.7:p.Val282=
ENST00000453551.6:c.768G>A	ENSP00000402953.2:p.Val256=
ENST00000456095.6:c.810G>A	ENSP00000395417.2:p.Val270=
ENST00000524570.5:n.1583G>A
ENST00000526459.5:c.843G>A	ENSP00000432610.1:p.Val281=
ENST00000526683.5:c.897G>A	ENSP00000434359.1:p.Val299=
ENST00000527197.5:c.759G>A	ENSP00000431960.1:p.Val253=
ENST00000527744.5:c.890G>A
ENST00000532884.1:c.506G>A
NM_001136033.2:c.768G>A	NP_001129505.1:p.Val256=
NM_001271096.1:c.843G>A	NP_001258025.1:p.Val281=
NM_001271097.1:c.759G>A	NP_001258026.1:p.Val253=
NM_001271098.1:c.894G>A	NP_001258027.1:p.Val298=
NM_001271099.1:c.810G>A	NP_001258028.1:p.Val270=
NM_001271100.1:c.717G>A	NP_001258029.1:p.Val239=
NM_014281.4:c.846G>A	NP_055096.2:p.Val282=
NM_078480.2:c.897G>A	NP_510965.1:p.Val299=
XM_011516929.1:c.1008G>A	XP_011515231.1:p.Val336=
XM_011516930.1:c.957G>A	XP_011515232.1:p.Val319=
NM_001362895.1:c.1008G>A	NP_001349824.1:p.Val336=
NM_001362896.1:c.1008G>A	NP_001349825.1:p.Val336=
NM_001362897.1:c.957G>A	NP_001349826.1:p.Val319=
XM_017013234.1:c.1008G>A	XP_016868723.1:p.Val336=
XM_017013235.1:c.972G>A	XP_016868724.1:p.Val324=
XM_017013236.1:c.957G>A	XP_016868725.1:p.Val319=
XM_017013239.1:c.768G>A	XP_016868728.1:p.Val256=
XM_017013240.1:c.717G>A	XP_016868729.1:p.Val239=
NM_001136033.3:c.768G>A	NP_001129505.1:p.Val256=
NM_001271096.2:c.843G>A	NP_001258025.1:p.Val281=
NM_001271097.2:c.759G>A	NP_001258026.1:p.Val253=
NM_001271098.2:c.894G>A	NP_001258027.1:p.Val298=
NM_001271099.2:c.810G>A	NP_001258028.1:p.Val270=
NM_001271100.2:c.717G>A	NP_001258029.1:p.Val239=
NM_001362895.2:c.1008G>A	NP_001349824.1:p.Val336=
NM_001362896.2:c.1008G>A	NP_001349825.1:p.Val336=
NM_001362897.2:c.957G>A	NP_001349826.1:p.Val319=
NM_014281.5:c.846G>A	NP_055096.2:p.Val282=
NM_078480.3:c.897G>A MANE Select	NP_510965.1:p.Val299=