Canonical Allele Identifier: CA372487704

Gene: PUF60

Linked Data

• ClinVar Variation Id: 2435304
• ClinVar RCV Id: RCV003135171
• dbSNP Id: rs1816412380
• gnomAD v4: 8-143817103-G-A
• COSMIC: COSM1313804
• MyVariant Identifiers: chr8:g.143817103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817103G>A , CM000670.2:g.143817103G>A	GRCh38
NC_000008.9:g.144971261G>A	NCBI36
NG_030583.1:g.3277C>T
NG_033879.1:g.17284C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1885C>T
ENST00000526151.6:n.3242C>T
ENST00000526459.6:c.1133C>T	ENSP00000432610.2:p.Ser378Leu
ENST00000527744.6:c.1184C>T	ENSP00000436131.2:p.Ser395Leu
ENST00000531951.6:c.1058C>T	ENSP00000515500.1:p.Ser353Leu
ENST00000532127.6:c.*1032C>T	ENSP00000515484.1:n.*1032C>T
ENST00000533162.2:c.1298C>T	ENSP00000433403.2:p.Ser433Leu
ENST00000533362.2:c.1262C>T	ENSP00000515502.1:p.Ser421Leu
ENST00000703744.1:n.1898C>T
ENST00000703803.1:n.1452C>T
ENST00000703846.1:c.1058C>T	ENSP00000515498.1:p.Ser353Leu
ENST00000703847.1:c.1298C>T	ENSP00000515499.1:p.Ser433Leu
ENST00000703848.1:n.1218C>T
ENST00000703849.1:c.1058C>T	ENSP00000515501.1:p.Ser353Leu
ENST00000703850.1:c.1262C>T	ENSP00000515503.1:p.Ser421Leu
ENST00000703851.1:n.1107C>T
ENST00000703866.1:c.1187C>T	ENSP00000515511.1:p.Ser396Leu
ENST00000526683.6:c.1187C>T MANE Select	ENSP00000434359.1:p.Ser396Leu
ENST00000313352.11:c.1007C>T	ENSP00000322016.7:p.Ser336Leu
ENST00000349157.10:c.1136C>T	ENSP00000322036.7:p.Ser379Leu
ENST00000453551.6:c.1058C>T	ENSP00000402953.2:p.Ser353Leu
ENST00000456095.6:c.1100C>T	ENSP00000395417.2:p.Ser367Leu
ENST00000524570.5:n.1873C>T
ENST00000526683.5:c.1187C>T	ENSP00000434359.1:p.Ser396Leu
ENST00000527197.5:c.1049C>T	ENSP00000431960.1:p.Ser350Leu
ENST00000532884.1:c.796C>T
NM_001136033.2:c.1058C>T	NP_001129505.1:p.Ser353Leu
NM_001271096.1:c.1133C>T	NP_001258025.1:p.Ser378Leu
NM_001271097.1:c.1049C>T	NP_001258026.1:p.Ser350Leu
NM_001271098.1:c.1184C>T	NP_001258027.1:p.Ser395Leu
NM_001271099.1:c.1100C>T	NP_001258028.1:p.Ser367Leu
NM_001271100.1:c.1007C>T	NP_001258029.1:p.Ser336Leu
NM_014281.4:c.1136C>T	NP_055096.2:p.Ser379Leu
NM_078480.2:c.1187C>T	NP_510965.1:p.Ser396Leu
XM_011516929.1:c.1298C>T	XP_011515231.1:p.Ser433Leu
XM_011516930.1:c.1247C>T	XP_011515232.1:p.Ser416Leu
NM_001362895.1:c.1298C>T	NP_001349824.1:p.Ser433Leu
NM_001362896.1:c.1298C>T	NP_001349825.1:p.Ser433Leu
NM_001362897.1:c.1247C>T	NP_001349826.1:p.Ser416Leu
XM_017013234.1:c.1298C>T	XP_016868723.1:p.Ser433Leu
XM_017013235.1:c.1262C>T	XP_016868724.1:p.Ser421Leu
XM_017013236.1:c.1247C>T	XP_016868725.1:p.Ser416Leu
XM_017013239.1:c.1058C>T	XP_016868728.1:p.Ser353Leu
XM_017013240.1:c.1007C>T	XP_016868729.1:p.Ser336Leu
NM_001136033.3:c.1058C>T	NP_001129505.1:p.Ser353Leu
NM_001271096.2:c.1133C>T	NP_001258025.1:p.Ser378Leu
NM_001271097.2:c.1049C>T	NP_001258026.1:p.Ser350Leu
NM_001271098.2:c.1184C>T	NP_001258027.1:p.Ser395Leu
NM_001271099.2:c.1100C>T	NP_001258028.1:p.Ser367Leu
NM_001271100.2:c.1007C>T	NP_001258029.1:p.Ser336Leu
NM_001362895.2:c.1298C>T	NP_001349824.1:p.Ser433Leu
NM_001362896.2:c.1298C>T	NP_001349825.1:p.Ser433Leu
NM_001362897.2:c.1247C>T	NP_001349826.1:p.Ser416Leu
NM_014281.5:c.1136C>T	NP_055096.2:p.Ser379Leu
NM_078480.3:c.1187C>T MANE Select	NP_510965.1:p.Ser396Leu