Canonical Allele Identifier: CA1143403519
Gene: MUTYH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331238G= , CM000663.2:g.45331238G= GRCh38
NC_000001.10:g.45796910G= , CM000663.1:g.45796910G= GRCh37
NC_000001.9:g.45569497G= NCBI36
NG_008189.1:g.14233C= , LRG_220:g.14233C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000412971.6:c.952C= ENSP00000410263.2:p.Arg318=
ENST00000435155.2:c.1369C= ENSP00000403655.2:p.Arg457=
ENST00000467459.6:c.*198C= ENSP00000435889.2:n.*198C=
ENST00000483127.2:c.1354C= ENSP00000436469.2:p.Arg452=
ENST00000485271.6:c.1336C= ENSP00000431264.2:p.Arg446=
ENST00000529892.6:c.1189C= ENSP00000432528.2:p.Arg397=
ENST00000533178.6:c.*665C= ENSP00000436430.2:n.*665C=
ENST00000672314.2:c.1336C= ENSP00000500828.2:p.Arg446=
ENST00000710952.2:c.1420C= MANE Plus Clinical ENSP00000518552.2:p.Arg474=
ENST00000672818.3:c.1411C= ENSP00000500891.1:p.Arg471=
ENST00000456914.7:c.1336C= MANE Select ENSP00000407590.2:p.Arg446=
ENST00000671898.1:c.1924C= ENSP00000499896.1:p.Arg642=
ENST00000672011.1:c.*665C= ENSP00000500418.1:n.*665C=
ENST00000672314.1:c.1336C= ENSP00000500828.1:p.Arg446=
ENST00000672818.2:c.1411C= ENSP00000500891.1:p.Arg471=
ENST00000673134.1:c.*1033C= ENSP00000500526.1:n.*1033C=
ENST00000354383.10:c.1339C= ENSP00000346354.6:p.Arg447=
ENST00000355498.6:c.1336C= ENSP00000347685.2:p.Arg446=
ENST00000372098.7:c.1411C= ENSP00000361170.3:p.Arg471=
ENST00000372104.5:c.1336C= ENSP00000361176.1:p.Arg446=
ENST00000372110.7:c.1381C= ENSP00000361182.3:p.Arg461=
ENST00000372115.7:c.1378C= ENSP00000361187.3:p.Arg460=
ENST00000448481.5:c.1369C= ENSP00000409718.1:p.Arg457=
ENST00000450313.5:c.1420C= ENSP00000408176.1:p.Arg474=
ENST00000456914.6:c.1336C= ENSP00000407590.2:p.Arg446=
ENST00000467459.5:c.753C= ENSP00000435889.1:n.753C=
ENST00000475516.5:c.*1149C= ENSP00000433843.1:n.*1149C=
ENST00000481571.5:c.*1149C= ENSP00000436597.1:n.*1149C=
ENST00000482094.5:n.657C=
ENST00000485271.5:c.33C=
ENST00000488731.6:c.421C= ENSP00000432330.1:p.Arg141=
ENST00000528013.6:c.1378C= ENSP00000433130.2:p.Arg460=
ENST00000529892.5:c.411C=
ENST00000529984.5:c.421C= ENSP00000437093.1:p.Arg141=
ENST00000531105.5:c.116-1801C= ENSP00000431292.1:n.116-1801C=
ENST00000533178.5:c.965C= ENSP00000436430.1:n.965C=
NM_001048171.1:c.1378C= NP_001041636.1:p.Arg460=
NM_001048172.1:c.1339C= NP_001041637.1:p.Arg447=
NM_001048173.1:c.1336C= NP_001041638.1:p.Arg446=
NM_001048174.1:c.1336C= NP_001041639.1:p.Arg446=
NM_001128425.1:c.1420C= , LRG_220t1:c.1420C= NP_001121897.1:p.Arg474=
NM_001293190.1:c.1381C= NP_001280119.1:p.Arg461=
NM_001293191.1:c.1369C= NP_001280120.1:p.Arg457=
NM_001293192.1:c.1060C= NP_001280121.1:p.Arg354=
NM_001293195.1:c.1336C= NP_001280124.1:p.Arg446=
NM_001293196.1:c.1060C= NP_001280125.1:p.Arg354=
NM_012222.2:c.1411C= NP_036354.1:p.Arg471=
XM_011541497.1:c.1396C= XP_011539799.1:p.Arg466=
XM_011541498.1:c.1378C= XP_011539800.1:p.Arg460=
XM_011541499.1:c.1378C= XP_011539801.1:p.Arg460=
XM_011541500.1:c.1378C= XP_011539802.1:p.Arg460=
XM_011541501.1:c.1378C= XP_011539803.1:p.Arg460=
XM_011541502.1:c.1378C= XP_011539804.1:p.Arg460=
XM_011541503.1:c.1378C= XP_011539805.1:p.Arg460=
XM_011541504.1:c.1369C= XP_011539806.1:p.Arg457=
XM_011541505.1:c.958C= XP_011539807.1:p.Arg320=
XM_011541506.1:c.958C= XP_011539808.1:p.Arg320=
XM_011541507.1:c.949C= XP_011539809.1:p.Arg317=
XM_011541508.1:c.964C= XP_011539810.1:p.Arg322=
XR_946658.1:n.1467C=
NM_001350650.1:c.991C= NP_001337579.1:p.Arg331=
NM_001350651.1:c.991C= NP_001337580.1:p.Arg331=
NR_146882.1:n.1594C=
NR_146883.1:n.1408C=
XM_011541497.3:c.1396C= XP_011539799.1:p.Arg466=
XM_011541500.3:c.1378C= XP_011539802.1:p.Arg460=
XM_011541501.2:c.1378C= XP_011539803.1:p.Arg460=
XM_011541502.2:c.1378C= XP_011539804.1:p.Arg460=
XM_011541503.2:c.1378C= XP_011539805.1:p.Arg460=
XM_011541504.2:c.1369C= XP_011539806.1:p.Arg457=
XM_011541505.2:c.958C= XP_011539807.1:p.Arg320=
XM_011541506.2:c.958C= XP_011539808.1:p.Arg320=
XM_017001331.1:c.1378C= XP_016856820.1:p.Arg460=
XM_017001332.1:c.1378C= XP_016856821.1:p.Arg460=
XM_017001333.1:c.1378C= XP_016856822.1:p.Arg460=
XM_017001334.1:c.1339C= XP_016856823.1:p.Arg447=
XM_017001335.1:c.1060C= XP_016856824.1:p.Arg354=
XM_017001336.1:c.991C= XP_016856825.1:p.Arg331=
XM_017001337.1:c.991C= XP_016856826.1:p.Arg331=
XM_024447244.1:c.991C= XP_024303012.1:p.Arg331=
XM_024447245.1:c.991C= XP_024303013.1:p.Arg331=
XM_024447248.1:c.949C= XP_024303016.1:p.Arg317=
XM_024447249.1:c.820C= XP_024303017.1:p.Arg274=
XM_024447250.1:c.820C= XP_024303018.1:p.Arg274=
XM_024447251.1:c.820C= XP_024303019.1:p.Arg274=
XR_001737190.1:n.1381C=
XR_001737192.1:n.1193C=
XR_002956643.1:n.1373C=
XR_002956644.1:n.1908C=
XR_946658.2:n.1481C=
NM_001048171.2:c.1336C= NP_001041636.2:p.Arg446=
NM_001128425.2:c.1420C= MANE Plus Clinical NP_001121897.1:p.Arg474=
NM_001048172.2:c.1339C= NP_001041637.1:p.Arg447=
NM_001048173.2:c.1336C= NP_001041638.1:p.Arg446=
NM_001048174.2:c.1336C= MANE Select NP_001041639.1:p.Arg446=
NM_001293190.2:c.1381C= NP_001280119.1:p.Arg461=
NM_001293191.2:c.1369C= NP_001280120.1:p.Arg457=
NM_001293192.2:c.1060C= NP_001280121.1:p.Arg354=
NM_001293195.2:c.1336C= NP_001280124.1:p.Arg446=
NM_001293196.2:c.1060C= NP_001280125.1:p.Arg354=
NM_001350650.2:c.991C= NP_001337579.1:p.Arg331=
NM_001350651.2:c.991C= NP_001337580.1:p.Arg331=
NM_012222.3:c.1411C= NP_036354.1:p.Arg471=
NR_146882.2:n.1564C=
NR_146883.2:n.1413C=