Canonical Allele Identifier: CA372492525

Gene: PUF60

Linked Data

• gnomAD v4: 8-143818225-T-C
• MyVariant Identifiers: chr8:g.143818225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818225T>C , CM000670.2:g.143818225T>C	GRCh38
NC_000008.9:g.144972383T>C	NCBI36
NG_030583.1:g.2155A>G
NG_033879.1:g.16162A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1269A>G
ENST00000526151.6:n.2626A>G
ENST00000526459.6:c.517A>G	ENSP00000432610.2:p.Asn173Asp
ENST00000527744.6:c.568A>G	ENSP00000436131.2:p.Asn190Asp
ENST00000531951.6:c.442A>G	ENSP00000515500.1:p.Asn148Asp
ENST00000532127.6:c.*416A>G	ENSP00000515484.1:n.*416A>G
ENST00000533162.2:c.682A>G	ENSP00000433403.2:p.Asn228Asp
ENST00000533362.2:c.646A>G	ENSP00000515502.1:p.Asn216Asp
ENST00000703744.1:n.1282A>G
ENST00000703803.1:n.719A>G
ENST00000703846.1:c.442A>G	ENSP00000515498.1:p.Asn148Asp
ENST00000703847.1:c.682A>G	ENSP00000515499.1:p.Asn228Asp
ENST00000703848.1:n.602A>G
ENST00000703849.1:c.442A>G	ENSP00000515501.1:p.Asn148Asp
ENST00000703850.1:c.646A>G	ENSP00000515503.1:p.Asn216Asp
ENST00000703851.1:n.491A>G
ENST00000703852.1:c.*494A>G	ENSP00000515504.1:n.*494A>G
ENST00000703853.1:n.485A>G
ENST00000703866.1:c.571A>G	ENSP00000515511.1:p.Asn191Asp
ENST00000526683.6:c.571A>G MANE Select	ENSP00000434359.1:p.Asn191Asp
ENST00000313352.11:c.391A>G	ENSP00000322016.7:p.Asn131Asp
ENST00000349157.10:c.520A>G	ENSP00000322036.7:p.Asn174Asp
ENST00000453551.6:c.442A>G	ENSP00000402953.2:p.Asn148Asp
ENST00000456095.6:c.484A>G	ENSP00000395417.2:p.Asn162Asp
ENST00000524570.5:n.1257A>G
ENST00000526459.5:c.517A>G	ENSP00000432610.1:p.Asn173Asp
ENST00000526683.5:c.571A>G	ENSP00000434359.1:p.Asn191Asp
ENST00000527197.5:c.433A>G	ENSP00000431960.1:p.Asn145Asp
ENST00000527744.5:c.564A>G
ENST00000528320.5:n.583A>G
ENST00000528999.5:n.302A>G
ENST00000529693.1:n.652A>G
ENST00000529999.5:c.631A>G	ENSP00000434863.1:p.Asn211Asp
ENST00000531897.5:c.631A>G	ENSP00000437309.1:p.Asn211Asp
ENST00000531951.5:n.731A>G
ENST00000532884.1:c.165A>G
ENST00000533162.1:c.682A>G	ENSP00000433403.1:p.Asn228Asp
NM_001136033.2:c.442A>G	NP_001129505.1:p.Asn148Asp
NM_001271096.1:c.517A>G	NP_001258025.1:p.Asn173Asp
NM_001271097.1:c.433A>G	NP_001258026.1:p.Asn145Asp
NM_001271098.1:c.568A>G	NP_001258027.1:p.Asn190Asp
NM_001271099.1:c.484A>G	NP_001258028.1:p.Asn162Asp
NM_001271100.1:c.391A>G	NP_001258029.1:p.Asn131Asp
NM_014281.4:c.520A>G	NP_055096.2:p.Asn174Asp
NM_078480.2:c.571A>G	NP_510965.1:p.Asn191Asp
XM_011516929.1:c.682A>G	XP_011515231.1:p.Asn228Asp
XM_011516930.1:c.631A>G	XP_011515232.1:p.Asn211Asp
NM_001362895.1:c.682A>G	NP_001349824.1:p.Asn228Asp
NM_001362896.1:c.682A>G	NP_001349825.1:p.Asn228Asp
NM_001362897.1:c.631A>G	NP_001349826.1:p.Asn211Asp
XM_017013234.1:c.682A>G	XP_016868723.1:p.Asn228Asp
XM_017013235.1:c.646A>G	XP_016868724.1:p.Asn216Asp
XM_017013236.1:c.631A>G	XP_016868725.1:p.Asn211Asp
XM_017013239.1:c.442A>G	XP_016868728.1:p.Asn148Asp
XM_017013240.1:c.391A>G	XP_016868729.1:p.Asn131Asp
NM_001136033.3:c.442A>G	NP_001129505.1:p.Asn148Asp
NM_001271096.2:c.517A>G	NP_001258025.1:p.Asn173Asp
NM_001271097.2:c.433A>G	NP_001258026.1:p.Asn145Asp
NM_001271098.2:c.568A>G	NP_001258027.1:p.Asn190Asp
NM_001271099.2:c.484A>G	NP_001258028.1:p.Asn162Asp
NM_001271100.2:c.391A>G	NP_001258029.1:p.Asn131Asp
NM_001362895.2:c.682A>G	NP_001349824.1:p.Asn228Asp
NM_001362896.2:c.682A>G	NP_001349825.1:p.Asn228Asp
NM_001362897.2:c.631A>G	NP_001349826.1:p.Asn211Asp
NM_014281.5:c.520A>G	NP_055096.2:p.Asn174Asp
NM_078480.3:c.571A>G MANE Select	NP_510965.1:p.Asn191Asp