Canonical Allele Identifier: CA187615910

Gene: PUF60

Linked Data

• dbSNP Id: rs941827828
• gnomAD v3: 8-143817108-G-A
• gnomAD v4: 8-143817108-G-A
• MyVariant Identifiers: chr8:g.143817108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817108G>A , CM000670.2:g.143817108G>A	GRCh38
NC_000008.9:g.144971266G>A	NCBI36
NG_030583.1:g.3272C>T
NG_033879.1:g.17279C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1880C>T
ENST00000526151.6:n.3237C>T
ENST00000526459.6:c.1128C>T	ENSP00000432610.2:p.Ile376=
ENST00000527744.6:c.1179C>T	ENSP00000436131.2:p.Ile393=
ENST00000531951.6:c.1053C>T	ENSP00000515500.1:p.Ile351=
ENST00000532127.6:c.*1027C>T	ENSP00000515484.1:n.*1027C>T
ENST00000533162.2:c.1293C>T	ENSP00000433403.2:p.Ile431=
ENST00000533362.2:c.1257C>T	ENSP00000515502.1:p.Ile419=
ENST00000703744.1:n.1893C>T
ENST00000703803.1:n.1447C>T
ENST00000703846.1:c.1053C>T	ENSP00000515498.1:p.Ile351=
ENST00000703847.1:c.1293C>T	ENSP00000515499.1:p.Ile431=
ENST00000703848.1:n.1213C>T
ENST00000703849.1:c.1053C>T	ENSP00000515501.1:p.Ile351=
ENST00000703850.1:c.1257C>T	ENSP00000515503.1:p.Ile419=
ENST00000703851.1:n.1102C>T
ENST00000703866.1:c.1182C>T	ENSP00000515511.1:p.Ile394=
ENST00000526683.6:c.1182C>T MANE Select	ENSP00000434359.1:p.Ile394=
ENST00000313352.11:c.1002C>T	ENSP00000322016.7:p.Ile334=
ENST00000349157.10:c.1131C>T	ENSP00000322036.7:p.Ile377=
ENST00000453551.6:c.1053C>T	ENSP00000402953.2:p.Ile351=
ENST00000456095.6:c.1095C>T	ENSP00000395417.2:p.Ile365=
ENST00000524570.5:n.1868C>T
ENST00000526683.5:c.1182C>T	ENSP00000434359.1:p.Ile394=
ENST00000527197.5:c.1044C>T	ENSP00000431960.1:p.Ile348=
ENST00000532884.1:c.791C>T
NM_001136033.2:c.1053C>T	NP_001129505.1:p.Ile351=
NM_001271096.1:c.1128C>T	NP_001258025.1:p.Ile376=
NM_001271097.1:c.1044C>T	NP_001258026.1:p.Ile348=
NM_001271098.1:c.1179C>T	NP_001258027.1:p.Ile393=
NM_001271099.1:c.1095C>T	NP_001258028.1:p.Ile365=
NM_001271100.1:c.1002C>T	NP_001258029.1:p.Ile334=
NM_014281.4:c.1131C>T	NP_055096.2:p.Ile377=
NM_078480.2:c.1182C>T	NP_510965.1:p.Ile394=
XM_011516929.1:c.1293C>T	XP_011515231.1:p.Ile431=
XM_011516930.1:c.1242C>T	XP_011515232.1:p.Ile414=
NM_001362895.1:c.1293C>T	NP_001349824.1:p.Ile431=
NM_001362896.1:c.1293C>T	NP_001349825.1:p.Ile431=
NM_001362897.1:c.1242C>T	NP_001349826.1:p.Ile414=
XM_017013234.1:c.1293C>T	XP_016868723.1:p.Ile431=
XM_017013235.1:c.1257C>T	XP_016868724.1:p.Ile419=
XM_017013236.1:c.1242C>T	XP_016868725.1:p.Ile414=
XM_017013239.1:c.1053C>T	XP_016868728.1:p.Ile351=
XM_017013240.1:c.1002C>T	XP_016868729.1:p.Ile334=
NM_001136033.3:c.1053C>T	NP_001129505.1:p.Ile351=
NM_001271096.2:c.1128C>T	NP_001258025.1:p.Ile376=
NM_001271097.2:c.1044C>T	NP_001258026.1:p.Ile348=
NM_001271098.2:c.1179C>T	NP_001258027.1:p.Ile393=
NM_001271099.2:c.1095C>T	NP_001258028.1:p.Ile365=
NM_001271100.2:c.1002C>T	NP_001258029.1:p.Ile334=
NM_001362895.2:c.1293C>T	NP_001349824.1:p.Ile431=
NM_001362896.2:c.1293C>T	NP_001349825.1:p.Ile431=
NM_001362897.2:c.1242C>T	NP_001349826.1:p.Ile414=
NM_014281.5:c.1131C>T	NP_055096.2:p.Ile377=
NM_078480.3:c.1182C>T MANE Select	NP_510965.1:p.Ile394=