Canonical Allele Identifier: CA372492551

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818231G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818231G>A , CM000670.2:g.143818231G>A	GRCh38
NC_000008.9:g.144972389G>A	NCBI36
NG_030583.1:g.2149C>T
NG_033879.1:g.16156C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1263C>T
ENST00000526151.6:n.2620C>T
ENST00000526459.6:c.511C>T	ENSP00000432610.2:p.Gln171Ter
ENST00000527744.6:c.562C>T	ENSP00000436131.2:p.Gln188Ter
ENST00000531951.6:c.436C>T	ENSP00000515500.1:p.Gln146Ter
ENST00000532127.6:c.*410C>T	ENSP00000515484.1:n.*410C>T
ENST00000533162.2:c.676C>T	ENSP00000433403.2:p.Gln226Ter
ENST00000533362.2:c.640C>T	ENSP00000515502.1:p.Gln214Ter
ENST00000703744.1:n.1276C>T
ENST00000703803.1:n.713C>T
ENST00000703846.1:c.436C>T	ENSP00000515498.1:p.Gln146Ter
ENST00000703847.1:c.676C>T	ENSP00000515499.1:p.Gln226Ter
ENST00000703848.1:n.596C>T
ENST00000703849.1:c.436C>T	ENSP00000515501.1:p.Gln146Ter
ENST00000703850.1:c.640C>T	ENSP00000515503.1:p.Gln214Ter
ENST00000703851.1:n.485C>T
ENST00000703852.1:c.*488C>T	ENSP00000515504.1:n.*488C>T
ENST00000703853.1:n.479C>T
ENST00000703866.1:c.565C>T	ENSP00000515511.1:p.Gln189Ter
ENST00000526683.6:c.565C>T MANE Select	ENSP00000434359.1:p.Gln189Ter
ENST00000313352.11:c.385C>T	ENSP00000322016.7:p.Gln129Ter
ENST00000349157.10:c.514C>T	ENSP00000322036.7:p.Gln172Ter
ENST00000453551.6:c.436C>T	ENSP00000402953.2:p.Gln146Ter
ENST00000456095.6:c.478C>T	ENSP00000395417.2:p.Gln160Ter
ENST00000524570.5:n.1251C>T
ENST00000526459.5:c.511C>T	ENSP00000432610.1:p.Gln171Ter
ENST00000526683.5:c.565C>T	ENSP00000434359.1:p.Gln189Ter
ENST00000527197.5:c.427C>T	ENSP00000431960.1:p.Gln143Ter
ENST00000527744.5:c.558C>T
ENST00000528320.5:n.577C>T
ENST00000528999.5:n.296C>T
ENST00000529693.1:n.646C>T
ENST00000529999.5:c.625C>T	ENSP00000434863.1:p.Gln209Ter
ENST00000531897.5:c.625C>T	ENSP00000437309.1:p.Gln209Ter
ENST00000531951.5:n.725C>T
ENST00000532884.1:c.159C>T
ENST00000533162.1:c.676C>T	ENSP00000433403.1:p.Gln226Ter
NM_001136033.2:c.436C>T	NP_001129505.1:p.Gln146Ter
NM_001271096.1:c.511C>T	NP_001258025.1:p.Gln171Ter
NM_001271097.1:c.427C>T	NP_001258026.1:p.Gln143Ter
NM_001271098.1:c.562C>T	NP_001258027.1:p.Gln188Ter
NM_001271099.1:c.478C>T	NP_001258028.1:p.Gln160Ter
NM_001271100.1:c.385C>T	NP_001258029.1:p.Gln129Ter
NM_014281.4:c.514C>T	NP_055096.2:p.Gln172Ter
NM_078480.2:c.565C>T	NP_510965.1:p.Gln189Ter
XM_011516929.1:c.676C>T	XP_011515231.1:p.Gln226Ter
XM_011516930.1:c.625C>T	XP_011515232.1:p.Gln209Ter
NM_001362895.1:c.676C>T	NP_001349824.1:p.Gln226Ter
NM_001362896.1:c.676C>T	NP_001349825.1:p.Gln226Ter
NM_001362897.1:c.625C>T	NP_001349826.1:p.Gln209Ter
XM_017013234.1:c.676C>T	XP_016868723.1:p.Gln226Ter
XM_017013235.1:c.640C>T	XP_016868724.1:p.Gln214Ter
XM_017013236.1:c.625C>T	XP_016868725.1:p.Gln209Ter
XM_017013239.1:c.436C>T	XP_016868728.1:p.Gln146Ter
XM_017013240.1:c.385C>T	XP_016868729.1:p.Gln129Ter
NM_001136033.3:c.436C>T	NP_001129505.1:p.Gln146Ter
NM_001271096.2:c.511C>T	NP_001258025.1:p.Gln171Ter
NM_001271097.2:c.427C>T	NP_001258026.1:p.Gln143Ter
NM_001271098.2:c.562C>T	NP_001258027.1:p.Gln188Ter
NM_001271099.2:c.478C>T	NP_001258028.1:p.Gln160Ter
NM_001271100.2:c.385C>T	NP_001258029.1:p.Gln129Ter
NM_001362895.2:c.676C>T	NP_001349824.1:p.Gln226Ter
NM_001362896.2:c.676C>T	NP_001349825.1:p.Gln226Ter
NM_001362897.2:c.625C>T	NP_001349826.1:p.Gln209Ter
NM_014281.5:c.514C>T	NP_055096.2:p.Gln172Ter
NM_078480.3:c.565C>T MANE Select	NP_510965.1:p.Gln189Ter