Canonical Allele Identifier: CA012750
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 41041
ClinVar RCV Id: RCV000033940
dbSNP Id: rs200844166

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331240G>T , CM000663.2:g.45331240G>T GRCh38
NC_000001.10:g.45796912G>T , CM000663.1:g.45796912G>T GRCh37
NC_000001.9:g.45569499G>T NCBI36
NG_008189.1:g.14231C>A , LRG_220:g.14231C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000456914.7:c.1334C>A MANE Select ENSP00000407590.2:p.Ala445Asp
ENST00000671898.1:c.1922C>A ENSP00000499896.1:p.Ala641Asp
ENST00000672011.1:c.*663C>A ENSP00000500418.1:p.=
ENST00000672314.1:c.1334C>A ENSP00000500828.1:p.Ala445Asp
ENST00000672818.2:c.1409C>A ENSP00000500891.1:p.Ala470Asp
ENST00000673134.1:c.*1031C>A ENSP00000500526.1:p.=
ENST00000354383.10:c.1337C>A ENSP00000346354.6:p.Ala446Asp
ENST00000355498.6:c.1334C>A ENSP00000347685.2:p.Ala445Asp
ENST00000372098.7:c.1409C>A ENSP00000361170.3:p.Ala470Asp
ENST00000372104.5:c.1334C>A ENSP00000361176.1:p.Ala445Asp
ENST00000372110.7:c.1379C>A ENSP00000361182.3:p.Ala460Asp
ENST00000372115.7:c.1376C>A ENSP00000361187.3:p.Ala459Asp
ENST00000448481.5:c.1367C>A ENSP00000409718.1:p.Ala456Asp
ENST00000450313.5:c.1418C>A ENSP00000408176.1:p.Ala473Asp
ENST00000456914.6:c.1334C>A ENSP00000407590.2:p.Ala445Asp
ENST00000467459.5:n.751C>A ENSP00000435889.1:p.=
ENST00000475516.5:c.*1147C>A ENSP00000433843.1:p.=
ENST00000481571.5:c.*1147C>A ENSP00000436597.1:p.=
ENST00000482094.5:n.655C>A
ENST00000485271.5:n.31C>A
ENST00000488731.6:c.419C>A ENSP00000432330.1:p.Ala140Asp
ENST00000528013.6:c.1376C>A ENSP00000433130.2:p.Ala459Asp
ENST00000529892.5:n.409C>A
ENST00000529984.5:c.419C>A ENSP00000437093.1:p.Ala140Asp
ENST00000531105.5:c.116-1803C>A ENSP00000431292.1:p.=
ENST00000533178.5:n.963C>A ENSP00000436430.1:p.=
NM_001048171.1:c.1376C>A NP_001041636.1:p.Ala459Asp
NM_001048172.1:c.1337C>A NP_001041637.1:p.Ala446Asp
NM_001048173.1:c.1334C>A NP_001041638.1:p.Ala445Asp
NM_001048174.1:c.1334C>A NP_001041639.1:p.Ala445Asp
NM_001128425.1:c.1418C>A , LRG_220t1:c.1418C>A NP_001121897.1:p.Ala473Asp
NM_001293190.1:c.1379C>A NP_001280119.1:p.Ala460Asp
NM_001293191.1:c.1367C>A NP_001280120.1:p.Ala456Asp
NM_001293192.1:c.1058C>A NP_001280121.1:p.Ala353Asp
NM_001293195.1:c.1334C>A NP_001280124.1:p.Ala445Asp
NM_001293196.1:c.1058C>A NP_001280125.1:p.Ala353Asp
NM_012222.2:c.1409C>A NP_036354.1:p.Ala470Asp
XM_011541497.1:c.1394C>A XP_011539799.1:p.Ala465Asp
XM_011541498.1:c.1376C>A XP_011539800.1:p.Ala459Asp
XM_011541499.1:c.1376C>A XP_011539801.1:p.Ala459Asp
XM_011541500.1:c.1376C>A XP_011539802.1:p.Ala459Asp
XM_011541501.1:c.1376C>A XP_011539803.1:p.Ala459Asp
XM_011541502.1:c.1376C>A XP_011539804.1:p.Ala459Asp
XM_011541503.1:c.1376C>A XP_011539805.1:p.Ala459Asp
XM_011541504.1:c.1367C>A XP_011539806.1:p.Ala456Asp
XM_011541505.1:c.956C>A XP_011539807.1:p.Ala319Asp
XM_011541506.1:c.956C>A XP_011539808.1:p.Ala319Asp
XM_011541507.1:c.947C>A XP_011539809.1:p.Ala316Asp
XM_011541508.1:c.962C>A XP_011539810.1:p.Ala321Asp
XR_946658.1:n.1465C>A
NM_001350650.1:c.989C>A NP_001337579.1:p.Ala330Asp
NM_001350651.1:c.989C>A NP_001337580.1:p.Ala330Asp
NR_146882.1:n.1592C>A
NR_146883.1:n.1406C>A
XM_011541497.3:c.1394C>A XP_011539799.1:p.Ala465Asp
XM_011541500.3:c.1376C>A XP_011539802.1:p.Ala459Asp
XM_011541501.2:c.1376C>A XP_011539803.1:p.Ala459Asp
XM_011541502.2:c.1376C>A XP_011539804.1:p.Ala459Asp
XM_011541503.2:c.1376C>A XP_011539805.1:p.Ala459Asp
XM_011541504.2:c.1367C>A XP_011539806.1:p.Ala456Asp
XM_011541505.2:c.956C>A XP_011539807.1:p.Ala319Asp
XM_011541506.2:c.956C>A XP_011539808.1:p.Ala319Asp
XM_017001331.1:c.1376C>A XP_016856820.1:p.Ala459Asp
XM_017001332.1:c.1376C>A XP_016856821.1:p.Ala459Asp
XM_017001333.1:c.1376C>A XP_016856822.1:p.Ala459Asp
XM_017001334.1:c.1337C>A XP_016856823.1:p.Ala446Asp
XM_017001335.1:c.1058C>A XP_016856824.1:p.Ala353Asp
XM_017001336.1:c.989C>A XP_016856825.1:p.Ala330Asp
XM_017001337.1:c.989C>A XP_016856826.1:p.Ala330Asp
XM_024447244.1:c.989C>A XP_024303012.1:p.Ala330Asp
XM_024447245.1:c.989C>A XP_024303013.1:p.Ala330Asp
XM_024447248.1:c.947C>A XP_024303016.1:p.Ala316Asp
XM_024447249.1:c.818C>A XP_024303017.1:p.Ala273Asp
XM_024447250.1:c.818C>A XP_024303018.1:p.Ala273Asp
XM_024447251.1:c.818C>A XP_024303019.1:p.Ala273Asp
XR_001737190.1:n.1379C>A
XR_001737192.1:n.1191C>A
XR_002956643.1:n.1371C>A
XR_002956644.1:n.1906C>A
XR_946658.2:n.1479C>A
NM_001048171.2:c.1334C>A NP_001041636.2:p.Ala445Asp
NM_001128425.2:c.1418C>A NP_001121897.1:p.Ala473Asp
NM_001048172.2:c.1337C>A NP_001041637.1:p.Ala446Asp
NM_001048173.2:c.1334C>A NP_001041638.1:p.Ala445Asp
NM_001048174.2:c.1334C>A MANE Select NP_001041639.1:p.Ala445Asp
NM_001293190.2:c.1379C>A NP_001280119.1:p.Ala460Asp
NM_001293191.2:c.1367C>A NP_001280120.1:p.Ala456Asp
NM_001293192.2:c.1058C>A NP_001280121.1:p.Ala353Asp
NM_001293195.2:c.1334C>A NP_001280124.1:p.Ala445Asp
NM_001293196.2:c.1058C>A NP_001280125.1:p.Ala353Asp
NM_001350650.2:c.989C>A NP_001337579.1:p.Ala330Asp
NM_001350651.2:c.989C>A NP_001337580.1:p.Ala330Asp
NM_012222.3:c.1409C>A NP_036354.1:p.Ala470Asp
NR_146882.2:n.1562C>A
NR_146883.2:n.1411C>A