Canonical Allele Identifier: CA372487733

Gene: PUF60

Linked Data

• gnomAD v4: 8-143817108-G-C
• MyVariant Identifiers: chr8:g.143817108G>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1880C>G
ENST00000526151.6:n.3237C>G
ENST00000526459.6:c.1128C>G	ENSP00000432610.2:p.Ile376Met
ENST00000527744.6:c.1179C>G	ENSP00000436131.2:p.Ile393Met
ENST00000531951.6:c.1053C>G	ENSP00000515500.1:p.Ile351Met
ENST00000532127.6:c.*1027C>G	ENSP00000515484.1:n.*1027C>G
ENST00000533162.2:c.1293C>G	ENSP00000433403.2:p.Ile431Met
ENST00000533362.2:c.1257C>G	ENSP00000515502.1:p.Ile419Met
ENST00000703744.1:n.1893C>G
ENST00000703803.1:n.1447C>G
ENST00000703846.1:c.1053C>G	ENSP00000515498.1:p.Ile351Met
ENST00000703847.1:c.1293C>G	ENSP00000515499.1:p.Ile431Met
ENST00000703848.1:n.1213C>G
ENST00000703849.1:c.1053C>G	ENSP00000515501.1:p.Ile351Met
ENST00000703850.1:c.1257C>G	ENSP00000515503.1:p.Ile419Met
ENST00000703851.1:n.1102C>G
ENST00000703866.1:c.1182C>G	ENSP00000515511.1:p.Ile394Met
ENST00000526683.6:c.1182C>G MANE Select	ENSP00000434359.1:p.Ile394Met
ENST00000313352.11:c.1002C>G	ENSP00000322016.7:p.Ile334Met
ENST00000349157.10:c.1131C>G	ENSP00000322036.7:p.Ile377Met
ENST00000453551.6:c.1053C>G	ENSP00000402953.2:p.Ile351Met
ENST00000456095.6:c.1095C>G	ENSP00000395417.2:p.Ile365Met
ENST00000524570.5:n.1868C>G
ENST00000526683.5:c.1182C>G	ENSP00000434359.1:p.Ile394Met
ENST00000527197.5:c.1044C>G	ENSP00000431960.1:p.Ile348Met
ENST00000532884.1:c.791C>G
NM_001136033.2:c.1053C>G	NP_001129505.1:p.Ile351Met
NM_001271096.1:c.1128C>G	NP_001258025.1:p.Ile376Met
NM_001271097.1:c.1044C>G	NP_001258026.1:p.Ile348Met
NM_001271098.1:c.1179C>G	NP_001258027.1:p.Ile393Met
NM_001271099.1:c.1095C>G	NP_001258028.1:p.Ile365Met
NM_001271100.1:c.1002C>G	NP_001258029.1:p.Ile334Met
NM_014281.4:c.1131C>G	NP_055096.2:p.Ile377Met
NM_078480.2:c.1182C>G	NP_510965.1:p.Ile394Met
XM_011516929.1:c.1293C>G	XP_011515231.1:p.Ile431Met
XM_011516930.1:c.1242C>G	XP_011515232.1:p.Ile414Met
NM_001362895.1:c.1293C>G	NP_001349824.1:p.Ile431Met
NM_001362896.1:c.1293C>G	NP_001349825.1:p.Ile431Met
NM_001362897.1:c.1242C>G	NP_001349826.1:p.Ile414Met
XM_017013234.1:c.1293C>G	XP_016868723.1:p.Ile431Met
XM_017013235.1:c.1257C>G	XP_016868724.1:p.Ile419Met
XM_017013236.1:c.1242C>G	XP_016868725.1:p.Ile414Met
XM_017013239.1:c.1053C>G	XP_016868728.1:p.Ile351Met
XM_017013240.1:c.1002C>G	XP_016868729.1:p.Ile334Met
NM_001136033.3:c.1053C>G	NP_001129505.1:p.Ile351Met
NM_001271096.2:c.1128C>G	NP_001258025.1:p.Ile376Met
NM_001271097.2:c.1044C>G	NP_001258026.1:p.Ile348Met
NM_001271098.2:c.1179C>G	NP_001258027.1:p.Ile393Met
NM_001271099.2:c.1095C>G	NP_001258028.1:p.Ile365Met
NM_001271100.2:c.1002C>G	NP_001258029.1:p.Ile334Met
NM_001362895.2:c.1293C>G	NP_001349824.1:p.Ile431Met
NM_001362896.2:c.1293C>G	NP_001349825.1:p.Ile431Met
NM_001362897.2:c.1242C>G	NP_001349826.1:p.Ile414Met
NM_014281.5:c.1131C>G	NP_055096.2:p.Ile377Met
NM_078480.3:c.1182C>G MANE Select	NP_510965.1:p.Ile394Met