Canonical Allele Identifier: CA372489009

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143817604C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817604C>A , CM000670.2:g.143817604C>A	GRCh38
NC_000008.9:g.144971762C>A	NCBI36
NG_030583.1:g.2776G>T
NG_033879.1:g.16783G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1694G>T
ENST00000526151.6:n.3051G>T
ENST00000526459.6:c.942G>T	ENSP00000432610.2:p.Lys314Asn
ENST00000527744.6:c.993G>T	ENSP00000436131.2:p.Lys331Asn
ENST00000531951.6:c.867G>T	ENSP00000515500.1:p.Lys289Asn
ENST00000532127.6:c.*841G>T	ENSP00000515484.1:n.*841G>T
ENST00000533162.2:c.1107G>T	ENSP00000433403.2:p.Lys369Asn
ENST00000533362.2:c.1071G>T	ENSP00000515502.1:p.Lys357Asn
ENST00000703744.1:n.1707G>T
ENST00000703803.1:n.1261G>T
ENST00000703846.1:c.867G>T	ENSP00000515498.1:p.Lys289Asn
ENST00000703847.1:c.1107G>T	ENSP00000515499.1:p.Lys369Asn
ENST00000703848.1:n.1027G>T
ENST00000703849.1:c.867G>T	ENSP00000515501.1:p.Lys289Asn
ENST00000703850.1:c.1071G>T	ENSP00000515503.1:p.Lys357Asn
ENST00000703851.1:n.916G>T
ENST00000703866.1:c.996G>T	ENSP00000515511.1:p.Lys332Asn
ENST00000526683.6:c.996G>T MANE Select	ENSP00000434359.1:p.Lys332Asn
ENST00000313352.11:c.816G>T	ENSP00000322016.7:p.Lys272Asn
ENST00000349157.10:c.945G>T	ENSP00000322036.7:p.Lys315Asn
ENST00000453551.6:c.867G>T	ENSP00000402953.2:p.Lys289Asn
ENST00000456095.6:c.909G>T	ENSP00000395417.2:p.Lys303Asn
ENST00000524570.5:n.1682G>T
ENST00000526459.5:c.942G>T	ENSP00000432610.1:p.Lys314Asn
ENST00000526683.5:c.996G>T	ENSP00000434359.1:p.Lys332Asn
ENST00000527197.5:c.858G>T	ENSP00000431960.1:p.Lys286Asn
ENST00000527744.5:c.989G>T
ENST00000532884.1:c.605G>T
NM_001136033.2:c.867G>T	NP_001129505.1:p.Lys289Asn
NM_001271096.1:c.942G>T	NP_001258025.1:p.Lys314Asn
NM_001271097.1:c.858G>T	NP_001258026.1:p.Lys286Asn
NM_001271098.1:c.993G>T	NP_001258027.1:p.Lys331Asn
NM_001271099.1:c.909G>T	NP_001258028.1:p.Lys303Asn
NM_001271100.1:c.816G>T	NP_001258029.1:p.Lys272Asn
NM_014281.4:c.945G>T	NP_055096.2:p.Lys315Asn
NM_078480.2:c.996G>T	NP_510965.1:p.Lys332Asn
XM_011516929.1:c.1107G>T	XP_011515231.1:p.Lys369Asn
XM_011516930.1:c.1056G>T	XP_011515232.1:p.Lys352Asn
NM_001362895.1:c.1107G>T	NP_001349824.1:p.Lys369Asn
NM_001362896.1:c.1107G>T	NP_001349825.1:p.Lys369Asn
NM_001362897.1:c.1056G>T	NP_001349826.1:p.Lys352Asn
XM_017013234.1:c.1107G>T	XP_016868723.1:p.Lys369Asn
XM_017013235.1:c.1071G>T	XP_016868724.1:p.Lys357Asn
XM_017013236.1:c.1056G>T	XP_016868725.1:p.Lys352Asn
XM_017013239.1:c.867G>T	XP_016868728.1:p.Lys289Asn
XM_017013240.1:c.816G>T	XP_016868729.1:p.Lys272Asn
NM_001136033.3:c.867G>T	NP_001129505.1:p.Lys289Asn
NM_001271096.2:c.942G>T	NP_001258025.1:p.Lys314Asn
NM_001271097.2:c.858G>T	NP_001258026.1:p.Lys286Asn
NM_001271098.2:c.993G>T	NP_001258027.1:p.Lys331Asn
NM_001271099.2:c.909G>T	NP_001258028.1:p.Lys303Asn
NM_001271100.2:c.816G>T	NP_001258029.1:p.Lys272Asn
NM_001362895.2:c.1107G>T	NP_001349824.1:p.Lys369Asn
NM_001362896.2:c.1107G>T	NP_001349825.1:p.Lys369Asn
NM_001362897.2:c.1056G>T	NP_001349826.1:p.Lys352Asn
NM_014281.5:c.945G>T	NP_055096.2:p.Lys315Asn
NM_078480.3:c.996G>T MANE Select	NP_510965.1:p.Lys332Asn