Canonical Allele Identifier: CA372489465

Gene: PUF60

Linked Data

• ClinVar Variation Id: 599207
• ClinVar RCV Id: RCV000735800
• dbSNP Id: rs1563823411
• MyVariant Identifiers: chr8:g.143817699T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817699T>A , CM000670.2:g.143817699T>A	GRCh38
NC_000008.9:g.144971857T>A	NCBI36
NG_030583.1:g.2681A>T
NG_033879.1:g.16688A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1599A>T
ENST00000526151.6:n.2956A>T
ENST00000526459.6:c.847A>T	ENSP00000432610.2:p.Lys283Ter
ENST00000527744.6:c.898A>T	ENSP00000436131.2:p.Lys300Ter
ENST00000531951.6:c.772A>T	ENSP00000515500.1:p.Lys258Ter
ENST00000532127.6:c.*746A>T	ENSP00000515484.1:n.*746A>T
ENST00000533162.2:c.1012A>T	ENSP00000433403.2:p.Lys338Ter
ENST00000533362.2:c.976A>T	ENSP00000515502.1:p.Lys326Ter
ENST00000703744.1:n.1612A>T
ENST00000703803.1:n.1166A>T
ENST00000703846.1:c.772A>T	ENSP00000515498.1:p.Lys258Ter
ENST00000703847.1:c.1012A>T	ENSP00000515499.1:p.Lys338Ter
ENST00000703848.1:n.932A>T
ENST00000703849.1:c.772A>T	ENSP00000515501.1:p.Lys258Ter
ENST00000703850.1:c.976A>T	ENSP00000515503.1:p.Lys326Ter
ENST00000703851.1:n.821A>T
ENST00000703866.1:c.901A>T	ENSP00000515511.1:p.Lys301Ter
ENST00000526683.6:c.901A>T MANE Select	ENSP00000434359.1:p.Lys301Ter
ENST00000313352.11:c.721A>T	ENSP00000322016.7:p.Lys241Ter
ENST00000349157.10:c.850A>T	ENSP00000322036.7:p.Lys284Ter
ENST00000453551.6:c.772A>T	ENSP00000402953.2:p.Lys258Ter
ENST00000456095.6:c.814A>T	ENSP00000395417.2:p.Lys272Ter
ENST00000524570.5:n.1587A>T
ENST00000526459.5:c.847A>T	ENSP00000432610.1:p.Lys283Ter
ENST00000526683.5:c.901A>T	ENSP00000434359.1:p.Lys301Ter
ENST00000527197.5:c.763A>T	ENSP00000431960.1:p.Lys255Ter
ENST00000527744.5:c.894A>T
ENST00000532884.1:c.510A>T
NM_001136033.2:c.772A>T	NP_001129505.1:p.Lys258Ter
NM_001271096.1:c.847A>T	NP_001258025.1:p.Lys283Ter
NM_001271097.1:c.763A>T	NP_001258026.1:p.Lys255Ter
NM_001271098.1:c.898A>T	NP_001258027.1:p.Lys300Ter
NM_001271099.1:c.814A>T	NP_001258028.1:p.Lys272Ter
NM_001271100.1:c.721A>T	NP_001258029.1:p.Lys241Ter
NM_014281.4:c.850A>T	NP_055096.2:p.Lys284Ter
NM_078480.2:c.901A>T	NP_510965.1:p.Lys301Ter
XM_011516929.1:c.1012A>T	XP_011515231.1:p.Lys338Ter
XM_011516930.1:c.961A>T	XP_011515232.1:p.Lys321Ter
NM_001362895.1:c.1012A>T	NP_001349824.1:p.Lys338Ter
NM_001362896.1:c.1012A>T	NP_001349825.1:p.Lys338Ter
NM_001362897.1:c.961A>T	NP_001349826.1:p.Lys321Ter
XM_017013234.1:c.1012A>T	XP_016868723.1:p.Lys338Ter
XM_017013235.1:c.976A>T	XP_016868724.1:p.Lys326Ter
XM_017013236.1:c.961A>T	XP_016868725.1:p.Lys321Ter
XM_017013239.1:c.772A>T	XP_016868728.1:p.Lys258Ter
XM_017013240.1:c.721A>T	XP_016868729.1:p.Lys241Ter
NM_001136033.3:c.772A>T	NP_001129505.1:p.Lys258Ter
NM_001271096.2:c.847A>T	NP_001258025.1:p.Lys283Ter
NM_001271097.2:c.763A>T	NP_001258026.1:p.Lys255Ter
NM_001271098.2:c.898A>T	NP_001258027.1:p.Lys300Ter
NM_001271099.2:c.814A>T	NP_001258028.1:p.Lys272Ter
NM_001271100.2:c.721A>T	NP_001258029.1:p.Lys241Ter
NM_001362895.2:c.1012A>T	NP_001349824.1:p.Lys338Ter
NM_001362896.2:c.1012A>T	NP_001349825.1:p.Lys338Ter
NM_001362897.2:c.961A>T	NP_001349826.1:p.Lys321Ter
NM_014281.5:c.850A>T	NP_055096.2:p.Lys284Ter
NM_078480.3:c.901A>T MANE Select	NP_510965.1:p.Lys301Ter