Canonical Allele Identifier: CA372487761

Gene: PUF60

Linked Data

• ClinVar Variation Id: 2662242
• ClinVar RCV Id: RCV003443737
• gnomAD v4: 8-143817115-A-G
• MyVariant Identifiers: chr8:g.143817115A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.143817115A>G , CM000670.2:g.143817115A>G	GRCh38
NC_000008.9:g.144971273A>G	NCBI36
NG_030583.1:g.3265T>C
NG_033879.1:g.17272T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000524570.6:n.1873T>C
ENST00000526151.6:n.3230T>C
ENST00000526459.6:c.1121T>C	ENSP00000432610.2:p.Val374Ala
ENST00000527744.6:c.1172T>C	ENSP00000436131.2:p.Val391Ala
ENST00000531951.6:c.1046T>C	ENSP00000515500.1:p.Val349Ala
ENST00000532127.6:c.*1020T>C	ENSP00000515484.1:n.*1020T>C
ENST00000533162.2:c.1286T>C	ENSP00000433403.2:p.Val429Ala
ENST00000533362.2:c.1250T>C	ENSP00000515502.1:p.Val417Ala
ENST00000703744.1:n.1886T>C
ENST00000703803.1:n.1440T>C
ENST00000703846.1:c.1046T>C	ENSP00000515498.1:p.Val349Ala
ENST00000703847.1:c.1286T>C	ENSP00000515499.1:p.Val429Ala
ENST00000703848.1:n.1206T>C
ENST00000703849.1:c.1046T>C	ENSP00000515501.1:p.Val349Ala
ENST00000703850.1:c.1250T>C	ENSP00000515503.1:p.Val417Ala
ENST00000703851.1:n.1095T>C
ENST00000703866.1:c.1175T>C	ENSP00000515511.1:p.Val392Ala
ENST00000526683.6:c.1175T>C MANE Select	ENSP00000434359.1:p.Val392Ala
ENST00000313352.11:c.995T>C	ENSP00000322016.7:p.Val332Ala
ENST00000349157.10:c.1124T>C	ENSP00000322036.7:p.Val375Ala
ENST00000453551.6:c.1046T>C	ENSP00000402953.2:p.Val349Ala
ENST00000456095.6:c.1088T>C	ENSP00000395417.2:p.Val363Ala
ENST00000524570.5:n.1861T>C
ENST00000526683.5:c.1175T>C	ENSP00000434359.1:p.Val392Ala
ENST00000527197.5:c.1037T>C	ENSP00000431960.1:p.Val346Ala
ENST00000532884.1:c.784T>C
NM_001136033.2:c.1046T>C	NP_001129505.1:p.Val349Ala
NM_001271096.1:c.1121T>C	NP_001258025.1:p.Val374Ala
NM_001271097.1:c.1037T>C	NP_001258026.1:p.Val346Ala
NM_001271098.1:c.1172T>C	NP_001258027.1:p.Val391Ala
NM_001271099.1:c.1088T>C	NP_001258028.1:p.Val363Ala
NM_001271100.1:c.995T>C	NP_001258029.1:p.Val332Ala
NM_014281.4:c.1124T>C	NP_055096.2:p.Val375Ala
NM_078480.2:c.1175T>C	NP_510965.1:p.Val392Ala
XM_011516929.1:c.1286T>C	XP_011515231.1:p.Val429Ala
XM_011516930.1:c.1235T>C	XP_011515232.1:p.Val412Ala
NM_001362895.1:c.1286T>C	NP_001349824.1:p.Val429Ala
NM_001362896.1:c.1286T>C	NP_001349825.1:p.Val429Ala
NM_001362897.1:c.1235T>C	NP_001349826.1:p.Val412Ala
XM_017013234.1:c.1286T>C	XP_016868723.1:p.Val429Ala
XM_017013235.1:c.1250T>C	XP_016868724.1:p.Val417Ala
XM_017013236.1:c.1235T>C	XP_016868725.1:p.Val412Ala
XM_017013239.1:c.1046T>C	XP_016868728.1:p.Val349Ala
XM_017013240.1:c.995T>C	XP_016868729.1:p.Val332Ala
NM_001136033.3:c.1046T>C	NP_001129505.1:p.Val349Ala
NM_001271096.2:c.1121T>C	NP_001258025.1:p.Val374Ala
NM_001271097.2:c.1037T>C	NP_001258026.1:p.Val346Ala
NM_001271098.2:c.1172T>C	NP_001258027.1:p.Val391Ala
NM_001271099.2:c.1088T>C	NP_001258028.1:p.Val363Ala
NM_001271100.2:c.995T>C	NP_001258029.1:p.Val332Ala
NM_001362895.2:c.1286T>C	NP_001349824.1:p.Val429Ala
NM_001362896.2:c.1286T>C	NP_001349825.1:p.Val429Ala
NM_001362897.2:c.1235T>C	NP_001349826.1:p.Val412Ala
NM_014281.5:c.1124T>C	NP_055096.2:p.Val375Ala
NM_078480.3:c.1175T>C MANE Select	NP_510965.1:p.Val392Ala