Canonical Allele Identifier: CA372492454

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818210C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818210C>T , CM000670.2:g.143818210C>T	GRCh38
NC_000008.9:g.144972368C>T	NCBI36
NG_030583.1:g.2170G>A
NG_033879.1:g.16177G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1284G>A
ENST00000526151.6:n.2641G>A
ENST00000526459.6:c.532G>A	ENSP00000432610.2:p.Gly178Arg
ENST00000527744.6:c.583G>A	ENSP00000436131.2:p.Gly195Arg
ENST00000531951.6:c.457G>A	ENSP00000515500.1:p.Gly153Arg
ENST00000532127.6:c.*431G>A	ENSP00000515484.1:n.*431G>A
ENST00000533162.2:c.697G>A	ENSP00000433403.2:p.Gly233Arg
ENST00000533362.2:c.661G>A	ENSP00000515502.1:p.Gly221Arg
ENST00000703744.1:n.1297G>A
ENST00000703803.1:n.734G>A
ENST00000703846.1:c.457G>A	ENSP00000515498.1:p.Gly153Arg
ENST00000703847.1:c.697G>A	ENSP00000515499.1:p.Gly233Arg
ENST00000703848.1:n.617G>A
ENST00000703849.1:c.457G>A	ENSP00000515501.1:p.Gly153Arg
ENST00000703850.1:c.661G>A	ENSP00000515503.1:p.Gly221Arg
ENST00000703851.1:n.506G>A
ENST00000703852.1:c.*509G>A	ENSP00000515504.1:n.*509G>A
ENST00000703853.1:n.500G>A
ENST00000703866.1:c.586G>A	ENSP00000515511.1:p.Gly196Arg
ENST00000526683.6:c.586G>A MANE Select	ENSP00000434359.1:p.Gly196Arg
ENST00000313352.11:c.406G>A	ENSP00000322016.7:p.Gly136Arg
ENST00000349157.10:c.535G>A	ENSP00000322036.7:p.Gly179Arg
ENST00000453551.6:c.457G>A	ENSP00000402953.2:p.Gly153Arg
ENST00000456095.6:c.499G>A	ENSP00000395417.2:p.Gly167Arg
ENST00000524570.5:n.1272G>A
ENST00000526459.5:c.532G>A	ENSP00000432610.1:p.Gly178Arg
ENST00000526683.5:c.586G>A	ENSP00000434359.1:p.Gly196Arg
ENST00000527197.5:c.448G>A	ENSP00000431960.1:p.Gly150Arg
ENST00000527744.5:c.579G>A
ENST00000528320.5:n.598G>A
ENST00000528999.5:n.317G>A
ENST00000529693.1:n.667G>A
ENST00000529999.5:c.646G>A	ENSP00000434863.1:p.Gly216Arg
ENST00000531897.5:c.646G>A	ENSP00000437309.1:p.Gly216Arg
ENST00000531951.5:n.746G>A
ENST00000532884.1:c.180G>A
NM_001136033.2:c.457G>A	NP_001129505.1:p.Gly153Arg
NM_001271096.1:c.532G>A	NP_001258025.1:p.Gly178Arg
NM_001271097.1:c.448G>A	NP_001258026.1:p.Gly150Arg
NM_001271098.1:c.583G>A	NP_001258027.1:p.Gly195Arg
NM_001271099.1:c.499G>A	NP_001258028.1:p.Gly167Arg
NM_001271100.1:c.406G>A	NP_001258029.1:p.Gly136Arg
NM_014281.4:c.535G>A	NP_055096.2:p.Gly179Arg
NM_078480.2:c.586G>A	NP_510965.1:p.Gly196Arg
XM_011516929.1:c.697G>A	XP_011515231.1:p.Gly233Arg
XM_011516930.1:c.646G>A	XP_011515232.1:p.Gly216Arg
NM_001362895.1:c.697G>A	NP_001349824.1:p.Gly233Arg
NM_001362896.1:c.697G>A	NP_001349825.1:p.Gly233Arg
NM_001362897.1:c.646G>A	NP_001349826.1:p.Gly216Arg
XM_017013234.1:c.697G>A	XP_016868723.1:p.Gly233Arg
XM_017013235.1:c.661G>A	XP_016868724.1:p.Gly221Arg
XM_017013236.1:c.646G>A	XP_016868725.1:p.Gly216Arg
XM_017013239.1:c.457G>A	XP_016868728.1:p.Gly153Arg
XM_017013240.1:c.406G>A	XP_016868729.1:p.Gly136Arg
NM_001136033.3:c.457G>A	NP_001129505.1:p.Gly153Arg
NM_001271096.2:c.532G>A	NP_001258025.1:p.Gly178Arg
NM_001271097.2:c.448G>A	NP_001258026.1:p.Gly150Arg
NM_001271098.2:c.583G>A	NP_001258027.1:p.Gly195Arg
NM_001271099.2:c.499G>A	NP_001258028.1:p.Gly167Arg
NM_001271100.2:c.406G>A	NP_001258029.1:p.Gly136Arg
NM_001362895.2:c.697G>A	NP_001349824.1:p.Gly233Arg
NM_001362896.2:c.697G>A	NP_001349825.1:p.Gly233Arg
NM_001362897.2:c.646G>A	NP_001349826.1:p.Gly216Arg
NM_014281.5:c.535G>A	NP_055096.2:p.Gly179Arg
NM_078480.3:c.586G>A MANE Select	NP_510965.1:p.Gly196Arg