Canonical Allele Identifier: CA014196
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 185274
dbSNP Id: rs34126013

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332458G>A , CM000663.2:g.45332458G>A GRCh38
NC_000001.10:g.45798130G>A , CM000663.1:g.45798130G>A GRCh37
NC_000001.9:g.45570717G>A NCBI36
NG_008189.1:g.13013C>T , LRG_220:g.13013C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450313.6:c.647C>T ENSP00000408176.2:p.Thr216Met
ENST00000456914.7:c.637C>T MANE Select ENSP00000407590.2:p.Arg213Trp
ENST00000461495.6:c.*376C>T ENSP00000437166.1:p.=
ENST00000671898.1:c.1225C>T ENSP00000499896.1:p.Arg409Trp
ENST00000672011.1:c.605C>T ENSP00000500418.1:p.Thr202Met
ENST00000672314.1:c.637C>T ENSP00000500828.1:p.Arg213Trp
ENST00000672593.1:c.*610C>T ENSP00000500455.1:p.=
ENST00000672764.1:c.596C>T ENSP00000500886.1:p.Thr199Met
ENST00000672818.2:c.712C>T ENSP00000500891.1:p.Arg238Trp
ENST00000673134.1:c.*334C>T ENSP00000500526.1:p.=
ENST00000674679.1:n.665C>T ENSP00000501623.1:p.=
ENST00000354383.10:c.640C>T ENSP00000346354.6:p.Arg214Trp
ENST00000355498.6:c.637C>T ENSP00000347685.2:p.Arg213Trp
ENST00000372098.7:c.712C>T ENSP00000361170.3:p.Arg238Trp
ENST00000372104.5:c.637C>T ENSP00000361176.1:p.Arg213Trp
ENST00000372110.7:c.682C>T ENSP00000361182.3:p.Arg228Trp
ENST00000372115.7:c.679C>T ENSP00000361187.3:p.Arg227Trp
ENST00000412971.5:c.253C>T ENSP00000410263.1:p.Arg85Trp
ENST00000435155.1:c.670C>T ENSP00000403655.1:p.Arg224Trp
ENST00000448481.5:c.670C>T ENSP00000409718.1:p.Arg224Trp
ENST00000450313.5:c.721C>T ENSP00000408176.1:p.Arg241Trp
ENST00000456914.6:c.637C>T ENSP00000407590.2:p.Arg213Trp
ENST00000461495.5:c.*376C>T ENSP00000437166.1:p.=
ENST00000462388.5:n.328C>T
ENST00000467459.5:n.31C>T ENSP00000435889.1:p.Arg11Trp
ENST00000467940.5:c.*560C>T ENSP00000436478.1:p.=
ENST00000470256.5:c.524C>T ENSP00000434985.1:p.Thr175Met
ENST00000475516.5:c.*450C>T ENSP00000433843.1:p.=
ENST00000478796.5:n.624C>T
ENST00000481571.5:c.*450C>T ENSP00000436597.1:p.=
ENST00000488731.6:c.187+305C>T ENSP00000432330.1:p.=
ENST00000525160.5:c.*288C>T ENSP00000431568.1:p.=
ENST00000528013.6:c.679C>T ENSP00000433130.2:p.Arg227Trp
ENST00000529984.5:c.187+305C>T ENSP00000437093.1:p.=
ENST00000531105.5:c.115+1933C>T ENSP00000431292.1:p.=
ENST00000533178.5:n.266C>T ENSP00000436430.1:p.Thr89Met
NM_001048171.1:c.679C>T NP_001041636.1:p.Arg227Trp
NM_001048172.1:c.640C>T NP_001041637.1:p.Arg214Trp
NM_001048173.1:c.637C>T NP_001041638.1:p.Arg213Trp
NM_001048174.1:c.637C>T NP_001041639.1:p.Arg213Trp
NM_001128425.1:c.721C>T , LRG_220t1:c.721C>T NP_001121897.1:p.Arg241Trp
NM_001293190.1:c.682C>T NP_001280119.1:p.Arg228Trp
NM_001293191.1:c.670C>T NP_001280120.1:p.Arg224Trp
NM_001293192.1:c.361C>T NP_001280121.1:p.Arg121Trp
NM_001293195.1:c.637C>T NP_001280124.1:p.Arg213Trp
NM_001293196.1:c.361C>T NP_001280125.1:p.Arg121Trp
NM_012222.2:c.712C>T NP_036354.1:p.Arg238Trp
XM_011541497.1:c.697C>T XP_011539799.1:p.Arg233Trp
XM_011541498.1:c.679C>T XP_011539800.1:p.Arg227Trp
XM_011541499.1:c.679C>T XP_011539801.1:p.Arg227Trp
XM_011541500.1:c.679C>T XP_011539802.1:p.Arg227Trp
XM_011541501.1:c.679C>T XP_011539803.1:p.Arg227Trp
XM_011541502.1:c.679C>T XP_011539804.1:p.Arg227Trp
XM_011541503.1:c.679C>T XP_011539805.1:p.Arg227Trp
XM_011541504.1:c.670C>T XP_011539806.1:p.Arg224Trp
XM_011541505.1:c.259C>T XP_011539807.1:p.Arg87Trp
XM_011541506.1:c.259C>T XP_011539808.1:p.Arg87Trp
XM_011541507.1:c.250C>T XP_011539809.1:p.Arg84Trp
XM_011541508.1:c.265C>T XP_011539810.1:p.Arg89Trp
XR_946658.1:n.768C>T
NM_001350650.1:c.292C>T NP_001337579.1:p.Arg98Trp
NM_001350651.1:c.292C>T NP_001337580.1:p.Arg98Trp
NR_146882.1:n.895C>T
NR_146883.1:n.709C>T
XM_011541497.3:c.697C>T XP_011539799.1:p.Arg233Trp
XM_011541500.3:c.679C>T XP_011539802.1:p.Arg227Trp
XM_011541501.2:c.679C>T XP_011539803.1:p.Arg227Trp
XM_011541502.2:c.679C>T XP_011539804.1:p.Arg227Trp
XM_011541503.2:c.679C>T XP_011539805.1:p.Arg227Trp
XM_011541504.2:c.670C>T XP_011539806.1:p.Arg224Trp
XM_011541505.2:c.259C>T XP_011539807.1:p.Arg87Trp
XM_011541506.2:c.259C>T XP_011539808.1:p.Arg87Trp
XM_017001331.1:c.679C>T XP_016856820.1:p.Arg227Trp
XM_017001332.1:c.679C>T XP_016856821.1:p.Arg227Trp
XM_017001333.1:c.679C>T XP_016856822.1:p.Arg227Trp
XM_017001334.1:c.640C>T XP_016856823.1:p.Arg214Trp
XM_017001335.1:c.361C>T XP_016856824.1:p.Arg121Trp
XM_017001336.1:c.292C>T XP_016856825.1:p.Arg98Trp
XM_017001337.1:c.292C>T XP_016856826.1:p.Arg98Trp
XM_024447244.1:c.292C>T XP_024303012.1:p.Arg98Trp
XM_024447245.1:c.292C>T XP_024303013.1:p.Arg98Trp
XM_024447248.1:c.250C>T XP_024303016.1:p.Arg84Trp
XM_024447249.1:c.121C>T XP_024303017.1:p.Arg41Trp
XM_024447250.1:c.121C>T XP_024303018.1:p.Arg41Trp
XM_024447251.1:c.121C>T XP_024303019.1:p.Arg41Trp
XR_001737190.1:n.682C>T
XR_001737192.1:n.494C>T
XR_002956643.1:n.674C>T
XR_002956644.1:n.1209C>T
XR_946658.2:n.782C>T
NM_001048171.2:c.637C>T NP_001041636.2:p.Arg213Trp
NM_001128425.2:c.721C>T NP_001121897.1:p.Arg241Trp
NM_001048172.2:c.640C>T NP_001041637.1:p.Arg214Trp
NM_001048173.2:c.637C>T NP_001041638.1:p.Arg213Trp
NM_001048174.2:c.637C>T MANE Select NP_001041639.1:p.Arg213Trp
NM_001293190.2:c.682C>T NP_001280119.1:p.Arg228Trp
NM_001293191.2:c.670C>T NP_001280120.1:p.Arg224Trp
NM_001293192.2:c.361C>T NP_001280121.1:p.Arg121Trp
NM_001293195.2:c.637C>T NP_001280124.1:p.Arg213Trp
NM_001293196.2:c.361C>T NP_001280125.1:p.Arg121Trp
NM_001350650.2:c.292C>T NP_001337579.1:p.Arg98Trp
NM_001350651.2:c.292C>T NP_001337580.1:p.Arg98Trp
NM_012222.3:c.712C>T NP_036354.1:p.Arg238Trp
NR_146882.2:n.865C>T
NR_146883.2:n.714C>T