Canonical Allele Identifier: CA372492462

Gene: PUF60

Linked Data

• MyVariant Identifiers: chr8:g.143818212A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143818212A>G , CM000670.2:g.143818212A>G	GRCh38
NC_000008.9:g.144972370A>G	NCBI36
NG_030583.1:g.2168T>C
NG_033879.1:g.16175T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1282T>C
ENST00000526151.6:n.2639T>C
ENST00000526459.6:c.530T>C	ENSP00000432610.2:p.Leu177Pro
ENST00000527744.6:c.581T>C	ENSP00000436131.2:p.Leu194Pro
ENST00000531951.6:c.455T>C	ENSP00000515500.1:p.Leu152Pro
ENST00000532127.6:c.*429T>C	ENSP00000515484.1:n.*429T>C
ENST00000533162.2:c.695T>C	ENSP00000433403.2:p.Leu232Pro
ENST00000533362.2:c.659T>C	ENSP00000515502.1:p.Leu220Pro
ENST00000703744.1:n.1295T>C
ENST00000703803.1:n.732T>C
ENST00000703846.1:c.455T>C	ENSP00000515498.1:p.Leu152Pro
ENST00000703847.1:c.695T>C	ENSP00000515499.1:p.Leu232Pro
ENST00000703848.1:n.615T>C
ENST00000703849.1:c.455T>C	ENSP00000515501.1:p.Leu152Pro
ENST00000703850.1:c.659T>C	ENSP00000515503.1:p.Leu220Pro
ENST00000703851.1:n.504T>C
ENST00000703852.1:c.*507T>C	ENSP00000515504.1:n.*507T>C
ENST00000703853.1:n.498T>C
ENST00000703866.1:c.584T>C	ENSP00000515511.1:p.Leu195Pro
ENST00000526683.6:c.584T>C MANE Select	ENSP00000434359.1:p.Leu195Pro
ENST00000313352.11:c.404T>C	ENSP00000322016.7:p.Leu135Pro
ENST00000349157.10:c.533T>C	ENSP00000322036.7:p.Leu178Pro
ENST00000453551.6:c.455T>C	ENSP00000402953.2:p.Leu152Pro
ENST00000456095.6:c.497T>C	ENSP00000395417.2:p.Leu166Pro
ENST00000524570.5:n.1270T>C
ENST00000526459.5:c.530T>C	ENSP00000432610.1:p.Leu177Pro
ENST00000526683.5:c.584T>C	ENSP00000434359.1:p.Leu195Pro
ENST00000527197.5:c.446T>C	ENSP00000431960.1:p.Leu149Pro
ENST00000527744.5:c.577T>C
ENST00000528320.5:n.596T>C
ENST00000528999.5:n.315T>C
ENST00000529693.1:n.665T>C
ENST00000529999.5:c.644T>C	ENSP00000434863.1:p.Leu215Pro
ENST00000531897.5:c.644T>C	ENSP00000437309.1:p.Leu215Pro
ENST00000531951.5:n.744T>C
ENST00000532884.1:c.178T>C
NM_001136033.2:c.455T>C	NP_001129505.1:p.Leu152Pro
NM_001271096.1:c.530T>C	NP_001258025.1:p.Leu177Pro
NM_001271097.1:c.446T>C	NP_001258026.1:p.Leu149Pro
NM_001271098.1:c.581T>C	NP_001258027.1:p.Leu194Pro
NM_001271099.1:c.497T>C	NP_001258028.1:p.Leu166Pro
NM_001271100.1:c.404T>C	NP_001258029.1:p.Leu135Pro
NM_014281.4:c.533T>C	NP_055096.2:p.Leu178Pro
NM_078480.2:c.584T>C	NP_510965.1:p.Leu195Pro
XM_011516929.1:c.695T>C	XP_011515231.1:p.Leu232Pro
XM_011516930.1:c.644T>C	XP_011515232.1:p.Leu215Pro
NM_001362895.1:c.695T>C	NP_001349824.1:p.Leu232Pro
NM_001362896.1:c.695T>C	NP_001349825.1:p.Leu232Pro
NM_001362897.1:c.644T>C	NP_001349826.1:p.Leu215Pro
XM_017013234.1:c.695T>C	XP_016868723.1:p.Leu232Pro
XM_017013235.1:c.659T>C	XP_016868724.1:p.Leu220Pro
XM_017013236.1:c.644T>C	XP_016868725.1:p.Leu215Pro
XM_017013239.1:c.455T>C	XP_016868728.1:p.Leu152Pro
XM_017013240.1:c.404T>C	XP_016868729.1:p.Leu135Pro
NM_001136033.3:c.455T>C	NP_001129505.1:p.Leu152Pro
NM_001271096.2:c.530T>C	NP_001258025.1:p.Leu177Pro
NM_001271097.2:c.446T>C	NP_001258026.1:p.Leu149Pro
NM_001271098.2:c.581T>C	NP_001258027.1:p.Leu194Pro
NM_001271099.2:c.497T>C	NP_001258028.1:p.Leu166Pro
NM_001271100.2:c.404T>C	NP_001258029.1:p.Leu135Pro
NM_001362895.2:c.695T>C	NP_001349824.1:p.Leu232Pro
NM_001362896.2:c.695T>C	NP_001349825.1:p.Leu232Pro
NM_001362897.2:c.644T>C	NP_001349826.1:p.Leu215Pro
NM_014281.5:c.533T>C	NP_055096.2:p.Leu178Pro
NM_078480.3:c.584T>C MANE Select	NP_510965.1:p.Leu195Pro