Canonical Allele Identifier: CA014164
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 184309
dbSNP Id: rs767327888

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332465G>A , CM000663.2:g.45332465G>A GRCh38
NC_000001.10:g.45798137G>A , CM000663.1:g.45798137G>A GRCh37
NC_000001.9:g.45570724G>A NCBI36
NG_008189.1:g.13006C>T , LRG_220:g.13006C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450313.6:c.640C>T ENSP00000408176.2:p.Arg214Cys
ENST00000456914.7:c.630C>T MANE Select ENSP00000407590.2:p.Asn210=
ENST00000461495.6:c.*369C>T ENSP00000437166.1:p.=
ENST00000671898.1:c.1218C>T ENSP00000499896.1:p.Asn406=
ENST00000672011.1:c.598C>T ENSP00000500418.1:p.Arg200Cys
ENST00000672314.1:c.630C>T ENSP00000500828.1:p.Asn210=
ENST00000672593.1:c.*603C>T ENSP00000500455.1:p.=
ENST00000672764.1:c.589C>T ENSP00000500886.1:p.Arg197Cys
ENST00000672818.2:c.705C>T ENSP00000500891.1:p.Asn235=
ENST00000673134.1:c.*327C>T ENSP00000500526.1:p.=
ENST00000674679.1:n.658C>T ENSP00000501623.1:p.=
ENST00000354383.10:c.633C>T ENSP00000346354.6:p.Asn211=
ENST00000355498.6:c.630C>T ENSP00000347685.2:p.Asn210=
ENST00000372098.7:c.705C>T ENSP00000361170.3:p.Asn235=
ENST00000372104.5:c.630C>T ENSP00000361176.1:p.Asn210=
ENST00000372110.7:c.675C>T ENSP00000361182.3:p.Asn225=
ENST00000372115.7:c.672C>T ENSP00000361187.3:p.Asn224=
ENST00000412971.5:c.246C>T ENSP00000410263.1:p.Asn82=
ENST00000435155.1:c.663C>T ENSP00000403655.1:p.Asn221=
ENST00000448481.5:c.663C>T ENSP00000409718.1:p.Asn221=
ENST00000450313.5:c.714C>T ENSP00000408176.1:p.Asn238=
ENST00000456914.6:c.630C>T ENSP00000407590.2:p.Asn210=
ENST00000461495.5:c.*369C>T ENSP00000437166.1:p.=
ENST00000462388.5:n.321C>T
ENST00000467459.5:n.24C>T ENSP00000435889.1:p.Asn8=
ENST00000467940.5:c.*553C>T ENSP00000436478.1:p.=
ENST00000470256.5:c.517C>T ENSP00000434985.1:p.Arg173Cys
ENST00000475516.5:c.*443C>T ENSP00000433843.1:p.=
ENST00000478796.5:n.617C>T
ENST00000481571.5:c.*443C>T ENSP00000436597.1:p.=
ENST00000488731.6:c.187+298C>T ENSP00000432330.1:p.=
ENST00000525160.5:c.*281C>T ENSP00000431568.1:p.=
ENST00000528013.6:c.672C>T ENSP00000433130.2:p.Asn224=
ENST00000529984.5:c.187+298C>T ENSP00000437093.1:p.=
ENST00000531105.5:c.115+1926C>T ENSP00000431292.1:p.=
ENST00000533178.5:n.259C>T ENSP00000436430.1:p.Arg87Cys
NM_001048171.1:c.672C>T NP_001041636.1:p.Asn224=
NM_001048172.1:c.633C>T NP_001041637.1:p.Asn211=
NM_001048173.1:c.630C>T NP_001041638.1:p.Asn210=
NM_001048174.1:c.630C>T NP_001041639.1:p.Asn210=
NM_001128425.1:c.714C>T , LRG_220t1:c.714C>T NP_001121897.1:p.Asn238=
NM_001293190.1:c.675C>T NP_001280119.1:p.Asn225=
NM_001293191.1:c.663C>T NP_001280120.1:p.Asn221=
NM_001293192.1:c.354C>T NP_001280121.1:p.Asn118=
NM_001293195.1:c.630C>T NP_001280124.1:p.Asn210=
NM_001293196.1:c.354C>T NP_001280125.1:p.Asn118=
NM_012222.2:c.705C>T NP_036354.1:p.Asn235=
XM_011541497.1:c.690C>T XP_011539799.1:p.Asn230=
XM_011541498.1:c.672C>T XP_011539800.1:p.Asn224=
XM_011541499.1:c.672C>T XP_011539801.1:p.Asn224=
XM_011541500.1:c.672C>T XP_011539802.1:p.Asn224=
XM_011541501.1:c.672C>T XP_011539803.1:p.Asn224=
XM_011541502.1:c.672C>T XP_011539804.1:p.Asn224=
XM_011541503.1:c.672C>T XP_011539805.1:p.Asn224=
XM_011541504.1:c.663C>T XP_011539806.1:p.Asn221=
XM_011541505.1:c.252C>T XP_011539807.1:p.Asn84=
XM_011541506.1:c.252C>T XP_011539808.1:p.Asn84=
XM_011541507.1:c.243C>T XP_011539809.1:p.Asn81=
XM_011541508.1:c.258C>T XP_011539810.1:p.Asn86=
XR_946658.1:n.761C>T
NM_001350650.1:c.285C>T NP_001337579.1:p.Asn95=
NM_001350651.1:c.285C>T NP_001337580.1:p.Asn95=
NR_146882.1:n.888C>T
NR_146883.1:n.702C>T
XM_011541497.3:c.690C>T XP_011539799.1:p.Asn230=
XM_011541500.3:c.672C>T XP_011539802.1:p.Asn224=
XM_011541501.2:c.672C>T XP_011539803.1:p.Asn224=
XM_011541502.2:c.672C>T XP_011539804.1:p.Asn224=
XM_011541503.2:c.672C>T XP_011539805.1:p.Asn224=
XM_011541504.2:c.663C>T XP_011539806.1:p.Asn221=
XM_011541505.2:c.252C>T XP_011539807.1:p.Asn84=
XM_011541506.2:c.252C>T XP_011539808.1:p.Asn84=
XM_017001331.1:c.672C>T XP_016856820.1:p.Asn224=
XM_017001332.1:c.672C>T XP_016856821.1:p.Asn224=
XM_017001333.1:c.672C>T XP_016856822.1:p.Asn224=
XM_017001334.1:c.633C>T XP_016856823.1:p.Asn211=
XM_017001335.1:c.354C>T XP_016856824.1:p.Asn118=
XM_017001336.1:c.285C>T XP_016856825.1:p.Asn95=
XM_017001337.1:c.285C>T XP_016856826.1:p.Asn95=
XM_024447244.1:c.285C>T XP_024303012.1:p.Asn95=
XM_024447245.1:c.285C>T XP_024303013.1:p.Asn95=
XM_024447248.1:c.243C>T XP_024303016.1:p.Asn81=
XM_024447249.1:c.114C>T XP_024303017.1:p.Asn38=
XM_024447250.1:c.114C>T XP_024303018.1:p.Asn38=
XM_024447251.1:c.114C>T XP_024303019.1:p.Asn38=
XR_001737190.1:n.675C>T
XR_001737192.1:n.487C>T
XR_002956643.1:n.667C>T
XR_002956644.1:n.1202C>T
XR_946658.2:n.775C>T
NM_001048171.2:c.630C>T NP_001041636.2:p.Asn210=
NM_001128425.2:c.714C>T NP_001121897.1:p.Asn238=
NM_001048172.2:c.633C>T NP_001041637.1:p.Asn211=
NM_001048173.2:c.630C>T NP_001041638.1:p.Asn210=
NM_001048174.2:c.630C>T MANE Select NP_001041639.1:p.Asn210=
NM_001293190.2:c.675C>T NP_001280119.1:p.Asn225=
NM_001293191.2:c.663C>T NP_001280120.1:p.Asn221=
NM_001293192.2:c.354C>T NP_001280121.1:p.Asn118=
NM_001293195.2:c.630C>T NP_001280124.1:p.Asn210=
NM_001293196.2:c.354C>T NP_001280125.1:p.Asn118=
NM_001350650.2:c.285C>T NP_001337579.1:p.Asn95=
NM_001350651.2:c.285C>T NP_001337580.1:p.Asn95=
NM_012222.3:c.705C>T NP_036354.1:p.Asn235=
NR_146882.2:n.858C>T
NR_146883.2:n.707C>T