Canonical Allele Identifier: CA011596
Gene: MUTYH HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5299
ClinVar RCV Id: RCV000005620
dbSNP Id: rs121908383

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331502T>C , CM000663.2:g.45331502T>C GRCh38
NC_000001.9:g.45569761T>C NCBI36
NC_000001.10:g.45797174T>C , CM000663.1:g.45797174T>C GRCh37
NG_008189.1:g.13969A>G , LRG_220:g.13969A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000354383.10:c.1160A>G ENSP00000346354.6:p.Gln387Arg
ENST00000355498.6:c.1157A>G ENSP00000347685.2:p.Gln386Arg
ENST00000372098.7:c.1232A>G ENSP00000361170.3:p.Gln411Arg
ENST00000372104.5:c.1157A>G ENSP00000361176.1:p.Gln386Arg
ENST00000372110.7:c.1202A>G ENSP00000361182.3:p.Gln401Arg
ENST00000372115.7:c.1199A>G ENSP00000361187.3:p.Gln400Arg
ENST00000448481.5:c.1190A>G ENSP00000409718.1:p.Gln397Arg
ENST00000450313.5:c.1241A>G ENSP00000408176.1:p.Gln414Arg
ENST00000456914.6:c.1157A>G ENSP00000407590.2:p.Gln386Arg
ENST00000467459.5:n.574A>G ENSP00000435889.1:p.=
ENST00000475516.5:c.*970A>G ENSP00000433843.1:p.=
ENST00000481571.5:c.*970A>G ENSP00000436597.1:p.=
ENST00000482094.5:n.478A>G
ENST00000488731.6:c.242A>G ENSP00000432330.1:p.Gln81Arg
ENST00000528013.6:c.1199A>G ENSP00000433130.2:p.Gln400Arg
ENST00000529892.5:n.232A>G
ENST00000529984.5:c.242A>G ENSP00000437093.1:p.Gln81Arg
ENST00000531105.5:c.116-2065A>G ENSP00000431292.1:p.=
ENST00000533178.5:n.786A>G ENSP00000436430.1:p.=
NM_001048171.1:c.1199A>G VV NP_001041636.1:p.Gln400Arg
NM_001048172.1:c.1160A>G VV NP_001041637.1:p.Gln387Arg
NM_001048173.1:c.1157A>G VV NP_001041638.1:p.Gln386Arg
NM_001048174.1:c.1157A>G VV NP_001041639.1:p.Gln386Arg
NM_001128425.1:c.1241A>G , LRG_220t1:c.1241A>G NP_001121897.1:p.Gln414Arg
NM_001293190.1:c.1202A>G VV NP_001280119.1:p.Gln401Arg
NM_001293191.1:c.1190A>G VV NP_001280120.1:p.Gln397Arg
NM_001293192.1:c.881A>G VV NP_001280121.1:p.Gln294Arg
NM_001293195.1:c.1157A>G VV NP_001280124.1:p.Gln386Arg
NM_001293196.1:c.881A>G VV NP_001280125.1:p.Gln294Arg
NM_012222.2:c.1232A>G VV NP_036354.1:p.Gln411Arg
XM_011541497.1:c.1217A>G XP_011539799.1:p.Gln406Arg
XM_011541498.1:c.1199A>G XP_011539800.1:p.Gln400Arg
XM_011541499.1:c.1199A>G XP_011539801.1:p.Gln400Arg
XM_011541500.1:c.1199A>G XP_011539802.1:p.Gln400Arg
XM_011541501.1:c.1199A>G XP_011539803.1:p.Gln400Arg
XM_011541502.1:c.1199A>G XP_011539804.1:p.Gln400Arg
XM_011541503.1:c.1199A>G XP_011539805.1:p.Gln400Arg
XM_011541504.1:c.1190A>G XP_011539806.1:p.Gln397Arg
XM_011541505.1:c.779A>G XP_011539807.1:p.Gln260Arg
XM_011541506.1:c.779A>G XP_011539808.1:p.Gln260Arg
XM_011541507.1:c.770A>G XP_011539809.1:p.Gln257Arg
XM_011541508.1:c.785A>G XP_011539810.1:p.Gln262Arg
XR_946658.1:n.1288A>G