Canonical Allele Identifier: CA2832431088

Gene: PUF60

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817595A>G , CM000670.2:g.143817595A>G	GRCh38
NC_000008.9:g.144971753A>G	NCBI36
NG_030583.1:g.2785T>C
NG_033879.1:g.16792T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000524570.6:n.1703T>C
ENST00000526151.6:n.3060T>C
ENST00000526459.6:c.951T>C	ENSP00000432610.2:p.Ala317=
ENST00000527744.6:c.1002T>C	ENSP00000436131.2:p.Ala334=
ENST00000531951.6:c.876T>C	ENSP00000515500.1:p.Ala292=
ENST00000532127.6:c.*850T>C	ENSP00000515484.1:n.*850T>C
ENST00000533162.2:c.1116T>C	ENSP00000433403.2:p.Ala372=
ENST00000533362.2:c.1080T>C	ENSP00000515502.1:p.Ala360=
ENST00000703744.1:n.1716T>C
ENST00000703803.1:n.1270T>C
ENST00000703846.1:c.876T>C	ENSP00000515498.1:p.Ala292=
ENST00000703847.1:c.1116T>C	ENSP00000515499.1:p.Ala372=
ENST00000703848.1:n.1036T>C
ENST00000703849.1:c.876T>C	ENSP00000515501.1:p.Ala292=
ENST00000703850.1:c.1080T>C	ENSP00000515503.1:p.Ala360=
ENST00000703851.1:n.925T>C
ENST00000703866.1:c.1005T>C	ENSP00000515511.1:p.Ala335=
ENST00000526683.6:c.1005T>C MANE Select	ENSP00000434359.1:p.Ala335=
ENST00000313352.11:c.825T>C	ENSP00000322016.7:p.Ala275=
ENST00000349157.10:c.954T>C	ENSP00000322036.7:p.Ala318=
ENST00000453551.6:c.876T>C	ENSP00000402953.2:p.Ala292=
ENST00000456095.6:c.918T>C	ENSP00000395417.2:p.Ala306=
ENST00000524570.5:n.1691T>C
ENST00000526459.5:c.951T>C	ENSP00000432610.1:p.Ala317=
ENST00000526683.5:c.1005T>C	ENSP00000434359.1:p.Ala335=
ENST00000527197.5:c.867T>C	ENSP00000431960.1:p.Ala289=
ENST00000527744.5:c.998T>C
ENST00000532884.1:c.614T>C
NM_001136033.2:c.876T>C	NP_001129505.1:p.Ala292=
NM_001271096.1:c.951T>C	NP_001258025.1:p.Ala317=
NM_001271097.1:c.867T>C	NP_001258026.1:p.Ala289=
NM_001271098.1:c.1002T>C	NP_001258027.1:p.Ala334=
NM_001271099.1:c.918T>C	NP_001258028.1:p.Ala306=
NM_001271100.1:c.825T>C	NP_001258029.1:p.Ala275=
NM_014281.4:c.954T>C	NP_055096.2:p.Ala318=
NM_078480.2:c.1005T>C	NP_510965.1:p.Ala335=
XM_011516929.1:c.1116T>C	XP_011515231.1:p.Ala372=
XM_011516930.1:c.1065T>C	XP_011515232.1:p.Ala355=
NM_001362895.1:c.1116T>C	NP_001349824.1:p.Ala372=
NM_001362896.1:c.1116T>C	NP_001349825.1:p.Ala372=
NM_001362897.1:c.1065T>C	NP_001349826.1:p.Ala355=
XM_017013234.1:c.1116T>C	XP_016868723.1:p.Ala372=
XM_017013235.1:c.1080T>C	XP_016868724.1:p.Ala360=
XM_017013236.1:c.1065T>C	XP_016868725.1:p.Ala355=
XM_017013239.1:c.876T>C	XP_016868728.1:p.Ala292=
XM_017013240.1:c.825T>C	XP_016868729.1:p.Ala275=
NM_001136033.3:c.876T>C	NP_001129505.1:p.Ala292=
NM_001271096.2:c.951T>C	NP_001258025.1:p.Ala317=
NM_001271097.2:c.867T>C	NP_001258026.1:p.Ala289=
NM_001271098.2:c.1002T>C	NP_001258027.1:p.Ala334=
NM_001271099.2:c.918T>C	NP_001258028.1:p.Ala306=
NM_001271100.2:c.825T>C	NP_001258029.1:p.Ala275=
NM_001362895.2:c.1116T>C	NP_001349824.1:p.Ala372=
NM_001362896.2:c.1116T>C	NP_001349825.1:p.Ala372=
NM_001362897.2:c.1065T>C	NP_001349826.1:p.Ala355=
NM_014281.5:c.954T>C	NP_055096.2:p.Ala318=
NM_078480.3:c.1005T>C MANE Select	NP_510965.1:p.Ala335=