Canonical Allele Identifier: CA340134668
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 827517
ClinVar RCV Id: RCV001027296
dbSNP Id: rs149866955

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.353G>C ENSP00000410263.2:p.Arg118Pro
ENST00000435155.2:c.770G>C ENSP00000403655.2:p.Arg257Pro
ENST00000467459.6:c.737G>C ENSP00000435889.2:p.Arg246Pro
ENST00000483127.2:c.755G>C ENSP00000436469.2:p.Arg252Pro
ENST00000485271.6:c.737G>C ENSP00000431264.2:p.Arg246Pro
ENST00000529892.6:c.779G>C ENSP00000432528.2:p.Arg260Pro
ENST00000533178.6:c.*66G>C ENSP00000436430.2:n.*66G>C
ENST00000672314.2:c.737G>C ENSP00000500828.2:p.Arg246Pro
ENST00000674679.2:c.*649G>C ENSP00000501623.2:n.*649G>C
ENST00000710952.2:c.821G>C MANE Plus Clinical ENSP00000518552.2:p.Arg274Pro
ENST00000672818.3:c.812G>C ENSP00000500891.1:p.Arg271Pro
ENST00000450313.6:c.*66G>C ENSP00000408176.2:n.*66G>C
ENST00000456914.7:c.737G>C MANE Select ENSP00000407590.2:p.Arg246Pro
ENST00000461495.6:c.*476G>C ENSP00000437166.1:n.*476G>C
ENST00000671898.1:c.1325G>C ENSP00000499896.1:p.Arg442Pro
ENST00000672011.1:c.*66G>C ENSP00000500418.1:n.*66G>C
ENST00000672314.1:c.737G>C ENSP00000500828.1:p.Arg246Pro
ENST00000672593.1:c.*790G>C ENSP00000500455.1:n.*790G>C
ENST00000672764.1:c.*66G>C ENSP00000500886.1:n.*66G>C
ENST00000672818.2:c.812G>C ENSP00000500891.1:p.Arg271Pro
ENST00000673134.1:c.*434G>C ENSP00000500526.1:n.*434G>C
ENST00000674679.1:c.765G>C ENSP00000501623.1:n.765G>C
ENST00000354383.10:c.740G>C ENSP00000346354.6:p.Arg247Pro
ENST00000355498.6:c.737G>C ENSP00000347685.2:p.Arg246Pro
ENST00000372098.7:c.812G>C ENSP00000361170.3:p.Arg271Pro
ENST00000372104.5:c.737G>C ENSP00000361176.1:p.Arg246Pro
ENST00000372110.7:c.782G>C ENSP00000361182.3:p.Arg261Pro
ENST00000372115.7:c.779G>C ENSP00000361187.3:p.Arg260Pro
ENST00000412971.5:c.353G>C ENSP00000410263.1:p.Arg118Pro
ENST00000435155.1:c.770G>C ENSP00000403655.1:p.Arg257Pro
ENST00000448481.5:c.770G>C ENSP00000409718.1:p.Arg257Pro
ENST00000450313.5:c.821G>C ENSP00000408176.1:p.Arg274Pro
ENST00000456914.6:c.737G>C ENSP00000407590.2:p.Arg246Pro
ENST00000461495.5:c.*476G>C ENSP00000437166.1:n.*476G>C
ENST00000462388.5:n.428G>C
ENST00000466231.1:n.102G>C
ENST00000467459.5:c.131G>C ENSP00000435889.1:p.Arg44Pro
ENST00000467940.5:c.*660G>C ENSP00000436478.1:n.*660G>C
ENST00000470256.5:c.*66G>C ENSP00000434985.1:n.*66G>C
ENST00000475516.5:c.*550G>C ENSP00000433843.1:n.*550G>C
ENST00000478796.5:n.724G>C
ENST00000481571.5:c.*550G>C ENSP00000436597.1:n.*550G>C
ENST00000488731.6:c.187+485G>C ENSP00000432330.1:n.187+485G>C
ENST00000528013.6:c.779G>C ENSP00000433130.2:p.Arg260Pro
ENST00000529892.5:c.1G>C
ENST00000529984.5:c.187+485G>C ENSP00000437093.1:n.187+485G>C
ENST00000531105.5:c.115+2113G>C ENSP00000431292.1:n.115+2113G>C
ENST00000533178.5:c.366G>C ENSP00000436430.1:n.366G>C
NM_001048171.1:c.779G>C NP_001041636.1:p.Arg260Pro
NM_001048172.1:c.740G>C NP_001041637.1:p.Arg247Pro
NM_001048173.1:c.737G>C NP_001041638.1:p.Arg246Pro
NM_001048174.1:c.737G>C NP_001041639.1:p.Arg246Pro
NM_001128425.1:c.821G>C , LRG_220t1:c.821G>C NP_001121897.1:p.Arg274Pro
NM_001293190.1:c.782G>C NP_001280119.1:p.Arg261Pro
NM_001293191.1:c.770G>C NP_001280120.1:p.Arg257Pro
NM_001293192.1:c.461G>C NP_001280121.1:p.Arg154Pro
NM_001293195.1:c.737G>C NP_001280124.1:p.Arg246Pro
NM_001293196.1:c.461G>C NP_001280125.1:p.Arg154Pro
NM_012222.2:c.812G>C NP_036354.1:p.Arg271Pro
XM_011541497.1:c.797G>C XP_011539799.1:p.Arg266Pro
XM_011541498.1:c.779G>C XP_011539800.1:p.Arg260Pro
XM_011541499.1:c.779G>C XP_011539801.1:p.Arg260Pro
XM_011541500.1:c.779G>C XP_011539802.1:p.Arg260Pro
XM_011541501.1:c.779G>C XP_011539803.1:p.Arg260Pro
XM_011541502.1:c.779G>C XP_011539804.1:p.Arg260Pro
XM_011541503.1:c.779G>C XP_011539805.1:p.Arg260Pro
XM_011541504.1:c.770G>C XP_011539806.1:p.Arg257Pro
XM_011541505.1:c.359G>C XP_011539807.1:p.Arg120Pro
XM_011541506.1:c.359G>C XP_011539808.1:p.Arg120Pro
XM_011541507.1:c.350G>C XP_011539809.1:p.Arg117Pro
XM_011541508.1:c.365G>C XP_011539810.1:p.Arg122Pro
XR_946658.1:n.868G>C
NM_001350650.1:c.392G>C NP_001337579.1:p.Arg131Pro
NM_001350651.1:c.392G>C NP_001337580.1:p.Arg131Pro
NR_146882.1:n.995G>C
NR_146883.1:n.809G>C
XM_011541497.3:c.797G>C XP_011539799.1:p.Arg266Pro
XM_011541500.3:c.779G>C XP_011539802.1:p.Arg260Pro
XM_011541501.2:c.779G>C XP_011539803.1:p.Arg260Pro
XM_011541502.2:c.779G>C XP_011539804.1:p.Arg260Pro
XM_011541503.2:c.779G>C XP_011539805.1:p.Arg260Pro
XM_011541504.2:c.770G>C XP_011539806.1:p.Arg257Pro
XM_011541505.2:c.359G>C XP_011539807.1:p.Arg120Pro
XM_011541506.2:c.359G>C XP_011539808.1:p.Arg120Pro
XM_017001331.1:c.779G>C XP_016856820.1:p.Arg260Pro
XM_017001332.1:c.779G>C XP_016856821.1:p.Arg260Pro
XM_017001333.1:c.779G>C XP_016856822.1:p.Arg260Pro
XM_017001334.1:c.740G>C XP_016856823.1:p.Arg247Pro
XM_017001335.1:c.461G>C XP_016856824.1:p.Arg154Pro
XM_017001336.1:c.392G>C XP_016856825.1:p.Arg131Pro
XM_017001337.1:c.392G>C XP_016856826.1:p.Arg131Pro
XM_024447244.1:c.392G>C XP_024303012.1:p.Arg131Pro
XM_024447245.1:c.392G>C XP_024303013.1:p.Arg131Pro
XM_024447248.1:c.350G>C XP_024303016.1:p.Arg117Pro
XM_024447249.1:c.221G>C XP_024303017.1:p.Arg74Pro
XM_024447250.1:c.221G>C XP_024303018.1:p.Arg74Pro
XM_024447251.1:c.221G>C XP_024303019.1:p.Arg74Pro
XR_001737190.1:n.782G>C
XR_001737192.1:n.594G>C
XR_002956643.1:n.774G>C
XR_002956644.1:n.1309G>C
XR_946658.2:n.882G>C
NM_001048171.2:c.737G>C NP_001041636.2:p.Arg246Pro
NM_001128425.2:c.821G>C MANE Plus Clinical NP_001121897.1:p.Arg274Pro
NM_001048172.2:c.740G>C NP_001041637.1:p.Arg247Pro
NM_001048173.2:c.737G>C NP_001041638.1:p.Arg246Pro
NM_001048174.2:c.737G>C MANE Select NP_001041639.1:p.Arg246Pro
NM_001293190.2:c.782G>C NP_001280119.1:p.Arg261Pro
NM_001293191.2:c.770G>C NP_001280120.1:p.Arg257Pro
NM_001293192.2:c.461G>C NP_001280121.1:p.Arg154Pro
NM_001293195.2:c.737G>C NP_001280124.1:p.Arg246Pro
NM_001293196.2:c.461G>C NP_001280125.1:p.Arg154Pro
NM_001350650.2:c.392G>C NP_001337579.1:p.Arg131Pro
NM_001350651.2:c.392G>C NP_001337580.1:p.Arg131Pro
NM_012222.3:c.812G>C NP_036354.1:p.Arg271Pro
NR_146882.2:n.965G>C
NR_146883.2:n.814G>C