Canonical Allele Identifier: CA011841
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 41764
dbSNP Id: rs149866955
gnomAD v2: 1-45797950-C-T
gnomAD v3: 1-45332278-C-T
gnomAD v4: 1-45332278-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332278C>T , CM000663.2:g.45332278C>T GRCh38
NC_000001.10:g.45797950C>T , CM000663.1:g.45797950C>T GRCh37
NC_000001.9:g.45570537C>T NCBI36
NG_008189.1:g.13193G>A , LRG_220:g.13193G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.353G>A ENSP00000410263.2:p.Arg118Gln
ENST00000435155.2:c.770G>A ENSP00000403655.2:p.Arg257Gln
ENST00000467459.6:c.737G>A ENSP00000435889.2:p.Arg246Gln
ENST00000483127.2:c.755G>A ENSP00000436469.2:p.Arg252Gln
ENST00000485271.6:c.737G>A ENSP00000431264.2:p.Arg246Gln
ENST00000529892.6:c.779G>A ENSP00000432528.2:p.Arg260Gln
ENST00000533178.6:c.*66G>A ENSP00000436430.2:n.*66G>A
ENST00000672314.2:c.737G>A ENSP00000500828.2:p.Arg246Gln
ENST00000674679.2:c.*649G>A ENSP00000501623.2:n.*649G>A
ENST00000710952.2:c.821G>A MANE Plus Clinical ENSP00000518552.2:p.Arg274Gln
ENST00000672818.3:c.812G>A ENSP00000500891.1:p.Arg271Gln
ENST00000450313.6:c.*66G>A ENSP00000408176.2:n.*66G>A
ENST00000456914.7:c.737G>A MANE Select ENSP00000407590.2:p.Arg246Gln
ENST00000461495.6:c.*476G>A ENSP00000437166.1:n.*476G>A
ENST00000671898.1:c.1325G>A ENSP00000499896.1:p.Arg442Gln
ENST00000672011.1:c.*66G>A ENSP00000500418.1:n.*66G>A
ENST00000672314.1:c.737G>A ENSP00000500828.1:p.Arg246Gln
ENST00000672593.1:c.*790G>A ENSP00000500455.1:n.*790G>A
ENST00000672764.1:c.*66G>A ENSP00000500886.1:n.*66G>A
ENST00000672818.2:c.812G>A ENSP00000500891.1:p.Arg271Gln
ENST00000673134.1:c.*434G>A ENSP00000500526.1:n.*434G>A
ENST00000674679.1:c.765G>A ENSP00000501623.1:n.765G>A
ENST00000354383.10:c.740G>A ENSP00000346354.6:p.Arg247Gln
ENST00000355498.6:c.737G>A ENSP00000347685.2:p.Arg246Gln
ENST00000372098.7:c.812G>A ENSP00000361170.3:p.Arg271Gln
ENST00000372104.5:c.737G>A ENSP00000361176.1:p.Arg246Gln
ENST00000372110.7:c.782G>A ENSP00000361182.3:p.Arg261Gln
ENST00000372115.7:c.779G>A ENSP00000361187.3:p.Arg260Gln
ENST00000412971.5:c.353G>A ENSP00000410263.1:p.Arg118Gln
ENST00000435155.1:c.770G>A ENSP00000403655.1:p.Arg257Gln
ENST00000448481.5:c.770G>A ENSP00000409718.1:p.Arg257Gln
ENST00000450313.5:c.821G>A ENSP00000408176.1:p.Arg274Gln
ENST00000456914.6:c.737G>A ENSP00000407590.2:p.Arg246Gln
ENST00000461495.5:c.*476G>A ENSP00000437166.1:n.*476G>A
ENST00000462388.5:n.428G>A
ENST00000466231.1:n.102G>A
ENST00000467459.5:c.131G>A ENSP00000435889.1:p.Arg44Gln
ENST00000467940.5:c.*660G>A ENSP00000436478.1:n.*660G>A
ENST00000470256.5:c.*66G>A ENSP00000434985.1:n.*66G>A
ENST00000475516.5:c.*550G>A ENSP00000433843.1:n.*550G>A
ENST00000478796.5:n.724G>A
ENST00000481571.5:c.*550G>A ENSP00000436597.1:n.*550G>A
ENST00000488731.6:c.187+485G>A ENSP00000432330.1:n.187+485G>A
ENST00000528013.6:c.779G>A ENSP00000433130.2:p.Arg260Gln
ENST00000529892.5:c.1G>A
ENST00000529984.5:c.187+485G>A ENSP00000437093.1:n.187+485G>A
ENST00000531105.5:c.115+2113G>A ENSP00000431292.1:n.115+2113G>A
ENST00000533178.5:c.366G>A ENSP00000436430.1:n.366G>A
NM_001048171.1:c.779G>A NP_001041636.1:p.Arg260Gln
NM_001048172.1:c.740G>A NP_001041637.1:p.Arg247Gln
NM_001048173.1:c.737G>A NP_001041638.1:p.Arg246Gln
NM_001048174.1:c.737G>A NP_001041639.1:p.Arg246Gln
NM_001128425.1:c.821G>A , LRG_220t1:c.821G>A NP_001121897.1:p.Arg274Gln
NM_001293190.1:c.782G>A NP_001280119.1:p.Arg261Gln
NM_001293191.1:c.770G>A NP_001280120.1:p.Arg257Gln
NM_001293192.1:c.461G>A NP_001280121.1:p.Arg154Gln
NM_001293195.1:c.737G>A NP_001280124.1:p.Arg246Gln
NM_001293196.1:c.461G>A NP_001280125.1:p.Arg154Gln
NM_012222.2:c.812G>A NP_036354.1:p.Arg271Gln
XM_011541497.1:c.797G>A XP_011539799.1:p.Arg266Gln
XM_011541498.1:c.779G>A XP_011539800.1:p.Arg260Gln
XM_011541499.1:c.779G>A XP_011539801.1:p.Arg260Gln
XM_011541500.1:c.779G>A XP_011539802.1:p.Arg260Gln
XM_011541501.1:c.779G>A XP_011539803.1:p.Arg260Gln
XM_011541502.1:c.779G>A XP_011539804.1:p.Arg260Gln
XM_011541503.1:c.779G>A XP_011539805.1:p.Arg260Gln
XM_011541504.1:c.770G>A XP_011539806.1:p.Arg257Gln
XM_011541505.1:c.359G>A XP_011539807.1:p.Arg120Gln
XM_011541506.1:c.359G>A XP_011539808.1:p.Arg120Gln
XM_011541507.1:c.350G>A XP_011539809.1:p.Arg117Gln
XM_011541508.1:c.365G>A XP_011539810.1:p.Arg122Gln
XR_946658.1:n.868G>A
NM_001350650.1:c.392G>A NP_001337579.1:p.Arg131Gln
NM_001350651.1:c.392G>A NP_001337580.1:p.Arg131Gln
NR_146882.1:n.995G>A
NR_146883.1:n.809G>A
XM_011541497.3:c.797G>A XP_011539799.1:p.Arg266Gln
XM_011541500.3:c.779G>A XP_011539802.1:p.Arg260Gln
XM_011541501.2:c.779G>A XP_011539803.1:p.Arg260Gln
XM_011541502.2:c.779G>A XP_011539804.1:p.Arg260Gln
XM_011541503.2:c.779G>A XP_011539805.1:p.Arg260Gln
XM_011541504.2:c.770G>A XP_011539806.1:p.Arg257Gln
XM_011541505.2:c.359G>A XP_011539807.1:p.Arg120Gln
XM_011541506.2:c.359G>A XP_011539808.1:p.Arg120Gln
XM_017001331.1:c.779G>A XP_016856820.1:p.Arg260Gln
XM_017001332.1:c.779G>A XP_016856821.1:p.Arg260Gln
XM_017001333.1:c.779G>A XP_016856822.1:p.Arg260Gln
XM_017001334.1:c.740G>A XP_016856823.1:p.Arg247Gln
XM_017001335.1:c.461G>A XP_016856824.1:p.Arg154Gln
XM_017001336.1:c.392G>A XP_016856825.1:p.Arg131Gln
XM_017001337.1:c.392G>A XP_016856826.1:p.Arg131Gln
XM_024447244.1:c.392G>A XP_024303012.1:p.Arg131Gln
XM_024447245.1:c.392G>A XP_024303013.1:p.Arg131Gln
XM_024447248.1:c.350G>A XP_024303016.1:p.Arg117Gln
XM_024447249.1:c.221G>A XP_024303017.1:p.Arg74Gln
XM_024447250.1:c.221G>A XP_024303018.1:p.Arg74Gln
XM_024447251.1:c.221G>A XP_024303019.1:p.Arg74Gln
XR_001737190.1:n.782G>A
XR_001737192.1:n.594G>A
XR_002956643.1:n.774G>A
XR_002956644.1:n.1309G>A
XR_946658.2:n.882G>A
NM_001048171.2:c.737G>A NP_001041636.2:p.Arg246Gln
NM_001128425.2:c.821G>A MANE Plus Clinical NP_001121897.1:p.Arg274Gln
NM_001048172.2:c.740G>A NP_001041637.1:p.Arg247Gln
NM_001048173.2:c.737G>A NP_001041638.1:p.Arg246Gln
NM_001048174.2:c.737G>A MANE Select NP_001041639.1:p.Arg246Gln
NM_001293190.2:c.782G>A NP_001280119.1:p.Arg261Gln
NM_001293191.2:c.770G>A NP_001280120.1:p.Arg257Gln
NM_001293192.2:c.461G>A NP_001280121.1:p.Arg154Gln
NM_001293195.2:c.737G>A NP_001280124.1:p.Arg246Gln
NM_001293196.2:c.461G>A NP_001280125.1:p.Arg154Gln
NM_001350650.2:c.392G>A NP_001337579.1:p.Arg131Gln
NM_001350651.2:c.392G>A NP_001337580.1:p.Arg131Gln
NM_012222.3:c.812G>A NP_036354.1:p.Arg271Gln
NR_146882.2:n.965G>A
NR_146883.2:n.814G>A