Canonical Allele Identifier: CA013297
Gene: MUTYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 140827
dbSNP Id: rs138775799
COSMIC: COSM290186

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45333472G>A , CM000663.2:g.45333472G>A GRCh38
NC_000001.10:g.45799144G>A , CM000663.1:g.45799144G>A GRCh37
NC_000001.9:g.45571731G>A NCBI36
NG_008189.1:g.11999C>T , LRG_220:g.11999C>T

Transcript Alleles

HGVS Amino-acid change
NM_001048171.1:c.247C>T VV NP_001041636.1:p.Arg83Ter
NM_001048172.1:c.208C>T VV NP_001041637.1:p.Arg70Ter
NM_001048173.1:c.205C>T VV NP_001041638.1:p.Arg69Ter
NM_001048174.1:c.205C>T VV NP_001041639.1:p.Arg69Ter
NM_001128425.1:c.289C>T , LRG_220t1:c.289C>T NP_001121897.1:p.Arg97Ter
NM_001293190.1:c.250C>T VV NP_001280119.1:p.Arg84Ter
NM_001293191.1:c.238C>T VV NP_001280120.1:p.Arg80Ter
NM_001293192.1:c.-72C>T VV NP_001280121.1:p.=
NM_001293195.1:c.205C>T VV NP_001280124.1:p.Arg69Ter
NM_001293196.1:c.-72C>T VV NP_001280125.1:p.=
NM_012222.2:c.280C>T VV NP_036354.1:p.Arg94Ter
XM_011541497.1:c.265C>T XP_011539799.1:p.Arg89Ter
XM_011541498.1:c.247C>T XP_011539800.1:p.Arg83Ter
XM_011541499.1:c.247C>T XP_011539801.1:p.Arg83Ter
XM_011541500.1:c.247C>T XP_011539802.1:p.Arg83Ter
XM_011541501.1:c.247C>T XP_011539803.1:p.Arg83Ter
XM_011541502.1:c.247C>T XP_011539804.1:p.Arg83Ter
XM_011541503.1:c.289C>T XP_011539805.1:p.Arg97Ter
XM_011541504.1:c.238C>T XP_011539806.1:p.Arg80Ter
XM_011541505.1:c.43-638C>T XP_011539807.1:p.=
XM_011541506.1:c.43-638C>T XP_011539808.1:p.=
XR_946658.1:n.336C>T
NM_001350650.1:c.-67C>T VV NP_001337579.1:p.=
NM_001350651.1:c.-67C>T VV NP_001337580.1:p.=
NR_146882.1:n.463C>T
NR_146883.1:n.351C>T
XM_011541497.3:c.265C>T XP_011539799.1:p.Arg89Ter
XM_011541500.3:c.247C>T XP_011539802.1:p.Arg83Ter
XM_011541501.2:c.247C>T XP_011539803.1:p.Arg83Ter
XM_011541502.2:c.247C>T XP_011539804.1:p.Arg83Ter
XM_011541503.2:c.289C>T XP_011539805.1:p.Arg97Ter
XM_011541504.2:c.238C>T XP_011539806.1:p.Arg80Ter
XM_011541505.2:c.43-638C>T XP_011539807.1:p.=
XM_011541506.2:c.43-638C>T XP_011539808.1:p.=
XM_017001331.1:c.247C>T XP_016856820.1:p.Arg83Ter
XM_017001332.1:c.247C>T XP_016856821.1:p.Arg83Ter
XM_017001333.1:c.247C>T XP_016856822.1:p.Arg83Ter
XM_017001334.1:c.208C>T XP_016856823.1:p.Arg70Ter
XM_017001335.1:c.-72C>T XP_016856824.1:p.=
XM_017001336.1:c.-67C>T XP_016856825.1:p.=
XM_017001337.1:c.-67C>T XP_016856826.1:p.=
XM_024447244.1:c.-67C>T XP_024303012.1:p.=
XM_024447245.1:c.-67C>T XP_024303013.1:p.=
XM_024447248.1:c.-67C>T XP_024303016.1:p.=
XM_024447249.1:c.-563C>T XP_024303017.1:p.=
XM_024447250.1:c.-563C>T XP_024303018.1:p.=
XM_024447251.1:c.-321C>T XP_024303019.1:p.=
XR_001737190.1:n.250C>T
XR_001737192.1:n.178C>T
XR_002956643.1:n.358C>T
XR_002956644.1:n.443C>T
XR_946658.2:n.350C>T
ENST00000354383.10:c.208C>T ENSP00000346354.6:p.Arg70Ter
ENST00000355498.6:c.205C>T ENSP00000347685.2:p.Arg69Ter
ENST00000372098.7:c.280C>T ENSP00000361170.3:p.Arg94Ter
ENST00000372104.5:c.205C>T ENSP00000361176.1:p.Arg69Ter
ENST00000372110.7:c.250C>T ENSP00000361182.3:p.Arg84Ter
ENST00000372115.7:c.247C>T ENSP00000361187.3:p.Arg83Ter
ENST00000412971.5:c.37-638C>T ENSP00000410263.1:p.=
ENST00000435155.1:c.238C>T ENSP00000403655.1:p.Arg80Ter
ENST00000448481.5:c.238C>T ENSP00000409718.1:p.Arg80Ter
ENST00000450313.5:c.289C>T ENSP00000408176.1:p.Arg97Ter
ENST00000456914.6:c.205C>T ENSP00000407590.2:p.Arg69Ter
ENST00000461495.5:c.*18C>T ENSP00000437166.1:p.=
ENST00000462387.5:n.336-148C>T
ENST00000467940.5:c.*128C>T ENSP00000436478.1:p.=
ENST00000470256.5:c.208C>T ENSP00000434985.1:p.Arg70Ter
ENST00000474703.1:n.360C>T
ENST00000475516.5:c.*18C>T ENSP00000433843.1:p.=
ENST00000476789.5:n.425C>T
ENST00000479746.6:n.268C>T
ENST00000481139.5:n.344C>T
ENST00000481571.5:c.*18C>T ENSP00000436597.1:p.=
ENST00000483127.1:c.223C>T ENSP00000436469.1:p.Arg75Ter
ENST00000483642.5:n.386C>T
ENST00000485484.5:n.255C>T
ENST00000488731.6:c.116-638C>T ENSP00000432330.1:p.=
ENST00000492494.5:n.268C>T
ENST00000525160.5:c.158-148C>T ENSP00000431568.1:p.=
ENST00000528013.6:c.247C>T ENSP00000433130.2:p.Arg83Ter
ENST00000529984.5:c.116-638C>T ENSP00000437093.1:p.=
ENST00000531105.5:c.115+919C>T ENSP00000431292.1:p.=
ENST00000533178.5:n.122-785C>T ENSP00000436430.1:p.=