Canonical Allele Identifier: CA6109824
Gene: MUS81 HGNC NCBI
COSMIC:
COSM3752637 (not active)
COSM3752638 (not active)
MyVariant.info:
GRCh38 chr11:g.65862463G>C
GRCh37 chr11:g.65629934G>C
Revel Score:
ENST00000533035 0.112
ENST00000308110 (MANE Select) 0.112
ENST00000437855 0.112
ENST00000525768 0.112
gnomAD v2:
11:65629934 G / C
gnomAD v3:
11:65862463 G / C
gnomAD v4:
chr11-65862463-G-C
Joint Max Group AF 0.68314165 (MID)
Genomes Max Group AF 0.66494002 (NFE)
Exomes Max Group AF 0.68373261 (MID)
dbSNP:
545500
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.65862463G>C , CM000673.2:g.65862463G>C GRCh38
NC_000011.9:g.65629934G>C , CM000673.1:g.65629934G>C GRCh37
NC_000011.8:g.65386510G>C NCBI36
NG_053116.1:g.7402G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000308110.9:c.539G>C MANE Select ENSP00000307853.4:p.Arg180Pro
ENST00000308110.8:c.539G>C ENSP00000307853.4:p.Arg180Pro
ENST00000524647.5:c.433G>C
ENST00000525768.5:c.314G>C ENSP00000431478.1:p.Arg105Pro
ENST00000529374.5:c.312G>C
ENST00000530111.1:c.225G>C
ENST00000531905.1:n.777G>C
ENST00000533035.5:c.314G>C ENSP00000432287.1:p.Arg105Pro
ENST00000533555.5:n.327G>C
NM_025128.4:c.539G>C NP_079404.3:p.Arg180Pro
XM_005274307.1:c.539G>C XP_005274364.1:p.Arg180Pro
XM_011545269.1:c.539G>C XP_011543571.1:p.Arg180Pro
XM_011545270.1:c.539G>C XP_011543572.1:p.Arg180Pro
XM_011545271.1:c.539G>C XP_011543573.1:p.Arg180Pro
XR_247212.2:n.707G>C
XR_950067.1:n.707G>C
NM_001350283.1:c.539G>C NP_001337212.1:p.Arg180Pro
NR_146598.1:n.892G>C
XR_001747984.1:n.707G>C
XR_001747985.1:n.707G>C
XR_001747986.1:n.707G>C
XR_247212.3:n.707G>C
XR_950067.2:n.707G>C
NM_025128.5:c.539G>C MANE Select NP_079404.3:p.Arg180Pro
NM_001350283.2:c.539G>C NP_001337212.1:p.Arg180Pro
NR_146598.2:n.860G>C
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