Canonical Allele Identifier: CA848786239

Gene: PUF60

Linked Data

• dbSNP Id: rs1401520617
• gnomAD v3: 8-143817524-G-C
• gnomAD v4: 8-143817524-G-C
• MyVariant Identifiers: chr8:g.143817524G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817524G>C , CM000670.2:g.143817524G>C	GRCh38
NC_000008.9:g.144971682G>C	NCBI36
NG_030583.1:g.2856C>G
NG_033879.1:g.16863C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1707-58C>G
ENST00000526151.6:n.3064-58C>G
ENST00000526459.6:c.955-58C>G	ENSP00000432610.2:n.955-58C>G
ENST00000527744.6:c.1006-58C>G	ENSP00000436131.2:n.1006-58C>G
ENST00000531951.6:c.880-58C>G	ENSP00000515500.1:n.880-58C>G
ENST00000532127.6:c.*854-58C>G	ENSP00000515484.1:n.*854-58C>G
ENST00000533162.2:c.1120-58C>G	ENSP00000433403.2:n.1120-58C>G
ENST00000533362.2:c.1084-58C>G	ENSP00000515502.1:n.1084-58C>G
ENST00000703744.1:n.1720-58C>G
ENST00000703803.1:n.1274-58C>G
ENST00000703846.1:c.880-58C>G	ENSP00000515498.1:n.880-58C>G
ENST00000703847.1:c.1120-58C>G	ENSP00000515499.1:n.1120-58C>G
ENST00000703848.1:n.1040-58C>G
ENST00000703849.1:c.880-58C>G	ENSP00000515501.1:n.880-58C>G
ENST00000703850.1:c.1084-58C>G	ENSP00000515503.1:n.1084-58C>G
ENST00000703851.1:n.929-58C>G
ENST00000703866.1:c.1009-58C>G	ENSP00000515511.1:n.1009-58C>G
ENST00000526683.6:c.1009-58C>G MANE Select	ENSP00000434359.1:n.1009-58C>G
ENST00000313352.11:c.829-58C>G	ENSP00000322016.7:n.829-58C>G
ENST00000349157.10:c.958-58C>G	ENSP00000322036.7:n.958-58C>G
ENST00000453551.6:c.880-58C>G	ENSP00000402953.2:n.880-58C>G
ENST00000456095.6:c.922-58C>G	ENSP00000395417.2:n.922-58C>G
ENST00000524570.5:n.1695-58C>G
ENST00000526683.5:c.1009-58C>G	ENSP00000434359.1:n.1009-58C>G
ENST00000527197.5:c.871-58C>G	ENSP00000431960.1:n.871-58C>G
ENST00000532884.1:c.618-58C>G
NM_001136033.2:c.880-58C>G	NP_001129505.1:n.880-58C>G
NM_001271096.1:c.955-58C>G	NP_001258025.1:n.955-58C>G
NM_001271097.1:c.871-58C>G	NP_001258026.1:n.871-58C>G
NM_001271098.1:c.1006-58C>G	NP_001258027.1:n.1006-58C>G
NM_001271099.1:c.922-58C>G	NP_001258028.1:n.922-58C>G
NM_001271100.1:c.829-58C>G	NP_001258029.1:n.829-58C>G
NM_014281.4:c.958-58C>G	NP_055096.2:n.958-58C>G
NM_078480.2:c.1009-58C>G	NP_510965.1:n.1009-58C>G
XM_011516929.1:c.1120-58C>G	XP_011515231.1:n.1120-58C>G
XM_011516930.1:c.1069-58C>G	XP_011515232.1:n.1069-58C>G
NM_001362895.1:c.1120-58C>G	NP_001349824.1:n.1120-58C>G
NM_001362896.1:c.1120-58C>G	NP_001349825.1:n.1120-58C>G
NM_001362897.1:c.1069-58C>G	NP_001349826.1:n.1069-58C>G
XM_017013234.1:c.1120-58C>G	XP_016868723.1:n.1120-58C>G
XM_017013235.1:c.1084-58C>G	XP_016868724.1:n.1084-58C>G
XM_017013236.1:c.1069-58C>G	XP_016868725.1:n.1069-58C>G
XM_017013239.1:c.880-58C>G	XP_016868728.1:n.880-58C>G
XM_017013240.1:c.829-58C>G	XP_016868729.1:n.829-58C>G
NM_001136033.3:c.880-58C>G	NP_001129505.1:n.880-58C>G
NM_001271096.2:c.955-58C>G	NP_001258025.1:n.955-58C>G
NM_001271097.2:c.871-58C>G	NP_001258026.1:n.871-58C>G
NM_001271098.2:c.1006-58C>G	NP_001258027.1:n.1006-58C>G
NM_001271099.2:c.922-58C>G	NP_001258028.1:n.922-58C>G
NM_001271100.2:c.829-58C>G	NP_001258029.1:n.829-58C>G
NM_001362895.2:c.1120-58C>G	NP_001349824.1:n.1120-58C>G
NM_001362896.2:c.1120-58C>G	NP_001349825.1:n.1120-58C>G
NM_001362897.2:c.1069-58C>G	NP_001349826.1:n.1069-58C>G
NM_014281.5:c.958-58C>G	NP_055096.2:n.958-58C>G
NM_078480.3:c.1009-58C>G MANE Select	NP_510965.1:n.1009-58C>G