Canonical Allele Identifier: CA372485735

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143816752A>G , CM000670.2:g.143816752A>G	GRCh38
NC_000008.9:g.144970910A>G	NCBI36
NG_030583.1:g.3628T>C
NG_033879.1:g.17635T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_078480.3:c.1448T>C MANE Select	NP_510965.1:p.Val483Ala
ENST00000526683.6:c.1448T>C MANE Select	ENSP00000434359.1:p.Val483Ala
NM_001136033.2:c.1319T>C	NP_001129505.1:p.Val440Ala
NM_001136033.3:c.1319T>C	NP_001129505.1:p.Val440Ala
NM_001271096.1:c.1394T>C	NP_001258025.1:p.Val465Ala
NM_001271096.2:c.1394T>C	NP_001258025.1:p.Val465Ala
NM_001271097.1:c.1310T>C	NP_001258026.1:p.Val437Ala
NM_001271097.2:c.1310T>C	NP_001258026.1:p.Val437Ala
NM_001271098.1:c.1445T>C	NP_001258027.1:p.Val482Ala
NM_001271098.2:c.1445T>C	NP_001258027.1:p.Val482Ala
NM_001271099.1:c.1361T>C	NP_001258028.1:p.Val454Ala
NM_001271099.2:c.1361T>C	NP_001258028.1:p.Val454Ala
NM_001271100.1:c.1268T>C	NP_001258029.1:p.Val423Ala
NM_001271100.2:c.1268T>C	NP_001258029.1:p.Val423Ala
NM_001362895.1:c.1559T>C	NP_001349824.1:p.Val520Ala
NM_001362895.2:c.1559T>C	NP_001349824.1:p.Val520Ala
NM_001362896.1:c.1559T>C	NP_001349825.1:p.Val520Ala
NM_001362896.2:c.1559T>C	NP_001349825.1:p.Val520Ala
NM_001362897.1:c.1508T>C	NP_001349826.1:p.Val503Ala
NM_001362897.2:c.1508T>C	NP_001349826.1:p.Val503Ala
NM_014281.4:c.1397T>C	NP_055096.2:p.Val466Ala
NM_014281.5:c.1397T>C	NP_055096.2:p.Val466Ala
NM_078480.2:c.1448T>C	NP_510965.1:p.Val483Ala
ENST00000313352.11:c.1268T>C	ENSP00000322016.7:p.Val423Ala
ENST00000349157.10:c.1397T>C	ENSP00000322036.7:p.Val466Ala
ENST00000453551.6:c.1319T>C	ENSP00000402953.2:p.Val440Ala
ENST00000456095.6:c.1361T>C	ENSP00000395417.2:p.Val454Ala
ENST00000524570.6:n.2146T>C
ENST00000526151.6:n.3503T>C
ENST00000526459.6:c.1394T>C	ENSP00000432610.2:p.Val465Ala
ENST00000526683.5:c.1448T>C	ENSP00000434359.1:p.Val483Ala
ENST00000527197.5:c.1310T>C	ENSP00000431960.1:p.Val437Ala
ENST00000527744.6:c.1445T>C	ENSP00000436131.2:p.Val482Ala
ENST00000531951.6:c.1319T>C	ENSP00000515500.1:p.Val440Ala
ENST00000532127.6:c.*1293T>C	ENSP00000515484.1:n.*1293T>C
ENST00000533162.2:c.1559T>C	ENSP00000433403.2:p.Val520Ala
ENST00000533362.2:c.1523T>C	ENSP00000515502.1:p.Val508Ala
ENST00000703744.1:n.2159T>C
ENST00000703803.1:n.1713T>C
ENST00000703846.1:c.1319T>C	ENSP00000515498.1:p.Val440Ala
ENST00000703847.1:c.1559T>C	ENSP00000515499.1:p.Val520Ala
ENST00000703848.1:n.1479T>C
ENST00000703849.1:c.1319T>C	ENSP00000515501.1:p.Val440Ala
ENST00000703850.1:c.1523T>C	ENSP00000515503.1:p.Val508Ala
ENST00000703866.1:c.1448T>C	ENSP00000515511.1:p.Val483Ala
XM_011516929.1:c.1559T>C	XP_011515231.1:p.Val520Ala
XM_011516930.1:c.1508T>C	XP_011515232.1:p.Val503Ala
XM_017013234.1:c.1559T>C	XP_016868723.1:p.Val520Ala
XM_017013235.1:c.1523T>C	XP_016868724.1:p.Val508Ala
XM_017013236.1:c.1508T>C	XP_016868725.1:p.Val503Ala
XM_017013239.1:c.1319T>C	XP_016868728.1:p.Val440Ala
XM_017013240.1:c.1268T>C	XP_016868729.1:p.Val423Ala