Canonical Allele Identifier: CA340132933

Gene: MUTYH

Linked Data

• ClinVar Variation Id: 849355
• ClinVar RCV Id: RCV001053298
• dbSNP Id: rs1644839551
• gnomAD v4: 1-45331478-T-C
• MyVariant Identifiers: chr1:g.45797150T>C (hg19) ; chr1:g.45331478T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.45331478T>C , CM000663.2:g.45331478T>C	GRCh38
NC_000001.10:g.45797150T>C , CM000663.1:g.45797150T>C	GRCh37
NC_000001.9:g.45569737T>C	NCBI36
NG_008189.1:g.13993A>G , LRG_220:g.13993A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000412971.6:c.797A>G	ENSP00000410263.2:p.Gln266Arg
ENST00000435155.2:c.1214A>G	ENSP00000403655.2:p.Gln405Arg
ENST00000467459.6:c.*43A>G	ENSP00000435889.2:n.*43A>G
ENST00000483127.2:c.1199A>G	ENSP00000436469.2:p.Gln400Arg
ENST00000485271.6:c.1181A>G	ENSP00000431264.2:p.Gln394Arg
ENST00000529892.6:c.1034A>G	ENSP00000432528.2:p.Gln345Arg
ENST00000533178.6:c.*510A>G	ENSP00000436430.2:n.*510A>G
ENST00000672314.2:c.1181A>G	ENSP00000500828.2:p.Gln394Arg
ENST00000710952.2:c.1265A>G MANE Plus Clinical	ENSP00000518552.2:p.Gln422Arg
ENST00000672818.3:c.1256A>G	ENSP00000500891.1:p.Gln419Arg
ENST00000456914.7:c.1181A>G MANE Select	ENSP00000407590.2:p.Gln394Arg
ENST00000671898.1:c.1769A>G	ENSP00000499896.1:p.Gln590Arg
ENST00000672011.1:c.*510A>G	ENSP00000500418.1:n.*510A>G
ENST00000672314.1:c.1181A>G	ENSP00000500828.1:p.Gln394Arg
ENST00000672593.1:c.*1407A>G	ENSP00000500455.1:n.*1407A>G
ENST00000672818.2:c.1256A>G	ENSP00000500891.1:p.Gln419Arg
ENST00000673134.1:c.*878A>G	ENSP00000500526.1:n.*878A>G
ENST00000354383.10:c.1184A>G	ENSP00000346354.6:p.Gln395Arg
ENST00000355498.6:c.1181A>G	ENSP00000347685.2:p.Gln394Arg
ENST00000372098.7:c.1256A>G	ENSP00000361170.3:p.Gln419Arg
ENST00000372104.5:c.1181A>G	ENSP00000361176.1:p.Gln394Arg
ENST00000372110.7:c.1226A>G	ENSP00000361182.3:p.Gln409Arg
ENST00000372115.7:c.1223A>G	ENSP00000361187.3:p.Gln408Arg
ENST00000448481.5:c.1214A>G	ENSP00000409718.1:p.Gln405Arg
ENST00000450313.5:c.1265A>G	ENSP00000408176.1:p.Gln422Arg
ENST00000456914.6:c.1181A>G	ENSP00000407590.2:p.Gln394Arg
ENST00000467459.5:c.598A>G	ENSP00000435889.1:n.598A>G
ENST00000475516.5:c.*994A>G	ENSP00000433843.1:n.*994A>G
ENST00000481571.5:c.*994A>G	ENSP00000436597.1:n.*994A>G
ENST00000482094.5:n.502A>G
ENST00000488731.6:c.266A>G	ENSP00000432330.1:p.Gln89Arg
ENST00000528013.6:c.1223A>G	ENSP00000433130.2:p.Gln408Arg
ENST00000529892.5:c.256A>G
ENST00000529984.5:c.266A>G	ENSP00000437093.1:p.Gln89Arg
ENST00000531105.5:c.116-2041A>G	ENSP00000431292.1:n.116-2041A>G
ENST00000533178.5:c.810A>G	ENSP00000436430.1:n.810A>G
NM_001048171.1:c.1223A>G	NP_001041636.1:p.Gln408Arg
NM_001048172.1:c.1184A>G	NP_001041637.1:p.Gln395Arg
NM_001048173.1:c.1181A>G	NP_001041638.1:p.Gln394Arg
NM_001048174.1:c.1181A>G	NP_001041639.1:p.Gln394Arg
NM_001128425.1:c.1265A>G , LRG_220t1:c.1265A>G	NP_001121897.1:p.Gln422Arg
NM_001293190.1:c.1226A>G	NP_001280119.1:p.Gln409Arg
NM_001293191.1:c.1214A>G	NP_001280120.1:p.Gln405Arg
NM_001293192.1:c.905A>G	NP_001280121.1:p.Gln302Arg
NM_001293195.1:c.1181A>G	NP_001280124.1:p.Gln394Arg
NM_001293196.1:c.905A>G	NP_001280125.1:p.Gln302Arg
NM_012222.2:c.1256A>G	NP_036354.1:p.Gln419Arg
XM_011541497.1:c.1241A>G	XP_011539799.1:p.Gln414Arg
XM_011541498.1:c.1223A>G	XP_011539800.1:p.Gln408Arg
XM_011541499.1:c.1223A>G	XP_011539801.1:p.Gln408Arg
XM_011541500.1:c.1223A>G	XP_011539802.1:p.Gln408Arg
XM_011541501.1:c.1223A>G	XP_011539803.1:p.Gln408Arg
XM_011541502.1:c.1223A>G	XP_011539804.1:p.Gln408Arg
XM_011541503.1:c.1223A>G	XP_011539805.1:p.Gln408Arg
XM_011541504.1:c.1214A>G	XP_011539806.1:p.Gln405Arg
XM_011541505.1:c.803A>G	XP_011539807.1:p.Gln268Arg
XM_011541506.1:c.803A>G	XP_011539808.1:p.Gln268Arg
XM_011541507.1:c.794A>G	XP_011539809.1:p.Gln265Arg
XM_011541508.1:c.809A>G	XP_011539810.1:p.Gln270Arg
XR_946658.1:n.1312A>G
NM_001350650.1:c.836A>G	NP_001337579.1:p.Gln279Arg
NM_001350651.1:c.836A>G	NP_001337580.1:p.Gln279Arg
NR_146882.1:n.1439A>G
NR_146883.1:n.1253A>G
XM_011541497.3:c.1241A>G	XP_011539799.1:p.Gln414Arg
XM_011541500.3:c.1223A>G	XP_011539802.1:p.Gln408Arg
XM_011541501.2:c.1223A>G	XP_011539803.1:p.Gln408Arg
XM_011541502.2:c.1223A>G	XP_011539804.1:p.Gln408Arg
XM_011541503.2:c.1223A>G	XP_011539805.1:p.Gln408Arg
XM_011541504.2:c.1214A>G	XP_011539806.1:p.Gln405Arg
XM_011541505.2:c.803A>G	XP_011539807.1:p.Gln268Arg
XM_011541506.2:c.803A>G	XP_011539808.1:p.Gln268Arg
XM_017001331.1:c.1223A>G	XP_016856820.1:p.Gln408Arg
XM_017001332.1:c.1223A>G	XP_016856821.1:p.Gln408Arg
XM_017001333.1:c.1223A>G	XP_016856822.1:p.Gln408Arg
XM_017001334.1:c.1184A>G	XP_016856823.1:p.Gln395Arg
XM_017001335.1:c.905A>G	XP_016856824.1:p.Gln302Arg
XM_017001336.1:c.836A>G	XP_016856825.1:p.Gln279Arg
XM_017001337.1:c.836A>G	XP_016856826.1:p.Gln279Arg
XM_024447244.1:c.836A>G	XP_024303012.1:p.Gln279Arg
XM_024447245.1:c.836A>G	XP_024303013.1:p.Gln279Arg
XM_024447248.1:c.794A>G	XP_024303016.1:p.Gln265Arg
XM_024447249.1:c.665A>G	XP_024303017.1:p.Gln222Arg
XM_024447250.1:c.665A>G	XP_024303018.1:p.Gln222Arg
XM_024447251.1:c.665A>G	XP_024303019.1:p.Gln222Arg
XR_001737190.1:n.1226A>G
XR_001737192.1:n.1038A>G
XR_002956643.1:n.1218A>G
XR_002956644.1:n.1753A>G
XR_946658.2:n.1326A>G
NM_001048171.2:c.1181A>G	NP_001041636.2:p.Gln394Arg
NM_001128425.2:c.1265A>G MANE Plus Clinical	NP_001121897.1:p.Gln422Arg
NM_001048172.2:c.1184A>G	NP_001041637.1:p.Gln395Arg
NM_001048173.2:c.1181A>G	NP_001041638.1:p.Gln394Arg
NM_001048174.2:c.1181A>G MANE Select	NP_001041639.1:p.Gln394Arg
NM_001293190.2:c.1226A>G	NP_001280119.1:p.Gln409Arg
NM_001293191.2:c.1214A>G	NP_001280120.1:p.Gln405Arg
NM_001293192.2:c.905A>G	NP_001280121.1:p.Gln302Arg
NM_001293195.2:c.1181A>G	NP_001280124.1:p.Gln394Arg
NM_001293196.2:c.905A>G	NP_001280125.1:p.Gln302Arg
NM_001350650.2:c.836A>G	NP_001337579.1:p.Gln279Arg
NM_001350651.2:c.836A>G	NP_001337580.1:p.Gln279Arg
NM_012222.3:c.1256A>G	NP_036354.1:p.Gln419Arg
NR_146882.2:n.1409A>G
NR_146883.2:n.1258A>G