Canonical Allele Identifier: CA014226
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 140877
dbSNP Id: rs140342925
COSMIC: COSM681164

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332445C>T , CM000663.2:g.45332445C>T GRCh38
NC_000001.10:g.45798117C>T , CM000663.1:g.45798117C>T GRCh37
NC_000001.9:g.45570704C>T NCBI36
NG_008189.1:g.13026G>A , LRG_220:g.13026G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450313.6:c.660G>A ENSP00000408176.2:p.Pro220=
ENST00000456914.7:c.650G>A MANE Select ENSP00000407590.2:p.Arg217His
ENST00000461495.6:c.*389G>A ENSP00000437166.1:p.=
ENST00000671898.1:c.1238G>A ENSP00000499896.1:p.Arg413His
ENST00000672011.1:c.618G>A ENSP00000500418.1:p.Pro206=
ENST00000672314.1:c.650G>A ENSP00000500828.1:p.Arg217His
ENST00000672593.1:c.*623G>A ENSP00000500455.1:p.=
ENST00000672764.1:c.609G>A ENSP00000500886.1:p.Pro203=
ENST00000672818.2:c.725G>A ENSP00000500891.1:p.Arg242His
ENST00000673134.1:c.*347G>A ENSP00000500526.1:p.=
ENST00000674679.1:n.678G>A ENSP00000501623.1:p.=
ENST00000354383.10:c.653G>A ENSP00000346354.6:p.Arg218His
ENST00000355498.6:c.650G>A ENSP00000347685.2:p.Arg217His
ENST00000372098.7:c.725G>A ENSP00000361170.3:p.Arg242His
ENST00000372104.5:c.650G>A ENSP00000361176.1:p.Arg217His
ENST00000372110.7:c.695G>A ENSP00000361182.3:p.Arg232His
ENST00000372115.7:c.692G>A ENSP00000361187.3:p.Arg231His
ENST00000412971.5:c.266G>A ENSP00000410263.1:p.Arg89His
ENST00000435155.1:c.683G>A ENSP00000403655.1:p.Arg228His
ENST00000448481.5:c.683G>A ENSP00000409718.1:p.Arg228His
ENST00000450313.5:c.734G>A ENSP00000408176.1:p.Arg245His
ENST00000456914.6:c.650G>A ENSP00000407590.2:p.Arg217His
ENST00000461495.5:c.*389G>A ENSP00000437166.1:p.=
ENST00000462388.5:n.341G>A
ENST00000467459.5:n.44G>A ENSP00000435889.1:p.Arg15His
ENST00000467940.5:c.*573G>A ENSP00000436478.1:p.=
ENST00000470256.5:c.537G>A ENSP00000434985.1:p.Pro179=
ENST00000475516.5:c.*463G>A ENSP00000433843.1:p.=
ENST00000478796.5:n.637G>A
ENST00000481571.5:c.*463G>A ENSP00000436597.1:p.=
ENST00000488731.6:c.187+318G>A ENSP00000432330.1:p.=
ENST00000525160.5:c.*301G>A ENSP00000431568.1:p.=
ENST00000528013.6:c.692G>A ENSP00000433130.2:p.Arg231His
ENST00000529984.5:c.187+318G>A ENSP00000437093.1:p.=
ENST00000531105.5:c.115+1946G>A ENSP00000431292.1:p.=
ENST00000533178.5:n.279G>A ENSP00000436430.1:p.Pro93=
NM_001048171.1:c.692G>A NP_001041636.1:p.Arg231His
NM_001048172.1:c.653G>A NP_001041637.1:p.Arg218His
NM_001048173.1:c.650G>A NP_001041638.1:p.Arg217His
NM_001048174.1:c.650G>A NP_001041639.1:p.Arg217His
NM_001128425.1:c.734G>A , LRG_220t1:c.734G>A NP_001121897.1:p.Arg245His
NM_001293190.1:c.695G>A NP_001280119.1:p.Arg232His
NM_001293191.1:c.683G>A NP_001280120.1:p.Arg228His
NM_001293192.1:c.374G>A NP_001280121.1:p.Arg125His
NM_001293195.1:c.650G>A NP_001280124.1:p.Arg217His
NM_001293196.1:c.374G>A NP_001280125.1:p.Arg125His
NM_012222.2:c.725G>A NP_036354.1:p.Arg242His
XM_011541497.1:c.710G>A XP_011539799.1:p.Arg237His
XM_011541498.1:c.692G>A XP_011539800.1:p.Arg231His
XM_011541499.1:c.692G>A XP_011539801.1:p.Arg231His
XM_011541500.1:c.692G>A XP_011539802.1:p.Arg231His
XM_011541501.1:c.692G>A XP_011539803.1:p.Arg231His
XM_011541502.1:c.692G>A XP_011539804.1:p.Arg231His
XM_011541503.1:c.692G>A XP_011539805.1:p.Arg231His
XM_011541504.1:c.683G>A XP_011539806.1:p.Arg228His
XM_011541505.1:c.272G>A XP_011539807.1:p.Arg91His
XM_011541506.1:c.272G>A XP_011539808.1:p.Arg91His
XM_011541507.1:c.263G>A XP_011539809.1:p.Arg88His
XM_011541508.1:c.278G>A XP_011539810.1:p.Arg93His
XR_946658.1:n.781G>A
NM_001350650.1:c.305G>A NP_001337579.1:p.Arg102His
NM_001350651.1:c.305G>A NP_001337580.1:p.Arg102His
NR_146882.1:n.908G>A
NR_146883.1:n.722G>A
XM_011541497.3:c.710G>A XP_011539799.1:p.Arg237His
XM_011541500.3:c.692G>A XP_011539802.1:p.Arg231His
XM_011541501.2:c.692G>A XP_011539803.1:p.Arg231His
XM_011541502.2:c.692G>A XP_011539804.1:p.Arg231His
XM_011541503.2:c.692G>A XP_011539805.1:p.Arg231His
XM_011541504.2:c.683G>A XP_011539806.1:p.Arg228His
XM_011541505.2:c.272G>A XP_011539807.1:p.Arg91His
XM_011541506.2:c.272G>A XP_011539808.1:p.Arg91His
XM_017001331.1:c.692G>A XP_016856820.1:p.Arg231His
XM_017001332.1:c.692G>A XP_016856821.1:p.Arg231His
XM_017001333.1:c.692G>A XP_016856822.1:p.Arg231His
XM_017001334.1:c.653G>A XP_016856823.1:p.Arg218His
XM_017001335.1:c.374G>A XP_016856824.1:p.Arg125His
XM_017001336.1:c.305G>A XP_016856825.1:p.Arg102His
XM_017001337.1:c.305G>A XP_016856826.1:p.Arg102His
XM_024447244.1:c.305G>A XP_024303012.1:p.Arg102His
XM_024447245.1:c.305G>A XP_024303013.1:p.Arg102His
XM_024447248.1:c.263G>A XP_024303016.1:p.Arg88His
XM_024447249.1:c.134G>A XP_024303017.1:p.Arg45His
XM_024447250.1:c.134G>A XP_024303018.1:p.Arg45His
XM_024447251.1:c.134G>A XP_024303019.1:p.Arg45His
XR_001737190.1:n.695G>A
XR_001737192.1:n.507G>A
XR_002956643.1:n.687G>A
XR_002956644.1:n.1222G>A
XR_946658.2:n.795G>A
NM_001048171.2:c.650G>A NP_001041636.2:p.Arg217His
NM_001128425.2:c.734G>A NP_001121897.1:p.Arg245His
NM_001048172.2:c.653G>A NP_001041637.1:p.Arg218His
NM_001048173.2:c.650G>A NP_001041638.1:p.Arg217His
NM_001048174.2:c.650G>A MANE Select NP_001041639.1:p.Arg217His
NM_001293190.2:c.695G>A NP_001280119.1:p.Arg232His
NM_001293191.2:c.683G>A NP_001280120.1:p.Arg228His
NM_001293192.2:c.374G>A NP_001280121.1:p.Arg125His
NM_001293195.2:c.650G>A NP_001280124.1:p.Arg217His
NM_001293196.2:c.374G>A NP_001280125.1:p.Arg125His
NM_001350650.2:c.305G>A NP_001337579.1:p.Arg102His
NM_001350651.2:c.305G>A NP_001337580.1:p.Arg102His
NM_012222.3:c.725G>A NP_036354.1:p.Arg242His
NR_146882.2:n.878G>A
NR_146883.2:n.727G>A