Canonical Allele Identifier: CA340132644
Gene: MUTYH HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45331256T>A , CM000663.2:g.45331256T>A GRCh38
NC_000001.10:g.45796928T>A , CM000663.1:g.45796928T>A GRCh37
NC_000001.9:g.45569515T>A NCBI36
NG_008189.1:g.14215A>T , LRG_220:g.14215A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.934A>T ENSP00000410263.2:p.Thr312Ser
ENST00000435155.2:c.1351A>T ENSP00000403655.2:p.Thr451Ser
ENST00000467459.6:c.*180A>T ENSP00000435889.2:n.*180A>T
ENST00000483127.2:c.1336A>T ENSP00000436469.2:p.Thr446Ser
ENST00000485271.6:c.1318A>T ENSP00000431264.2:p.Thr440Ser
ENST00000529892.6:c.1171A>T ENSP00000432528.2:p.Thr391Ser
ENST00000533178.6:c.*647A>T ENSP00000436430.2:n.*647A>T
ENST00000672314.2:c.1318A>T ENSP00000500828.2:p.Thr440Ser
ENST00000710952.2:c.1402A>T MANE Plus Clinical ENSP00000518552.2:p.Thr468Ser
ENST00000672818.3:c.1393A>T ENSP00000500891.1:p.Thr465Ser
ENST00000456914.7:c.1318A>T MANE Select ENSP00000407590.2:p.Thr440Ser
ENST00000671898.1:c.1906A>T ENSP00000499896.1:p.Thr636Ser
ENST00000672011.1:c.*647A>T ENSP00000500418.1:n.*647A>T
ENST00000672314.1:c.1318A>T ENSP00000500828.1:p.Thr440Ser
ENST00000672818.2:c.1393A>T ENSP00000500891.1:p.Thr465Ser
ENST00000673134.1:c.*1015A>T ENSP00000500526.1:n.*1015A>T
ENST00000354383.10:c.1321A>T ENSP00000346354.6:p.Thr441Ser
ENST00000355498.6:c.1318A>T ENSP00000347685.2:p.Thr440Ser
ENST00000372098.7:c.1393A>T ENSP00000361170.3:p.Thr465Ser
ENST00000372104.5:c.1318A>T ENSP00000361176.1:p.Thr440Ser
ENST00000372110.7:c.1363A>T ENSP00000361182.3:p.Thr455Ser
ENST00000372115.7:c.1360A>T ENSP00000361187.3:p.Thr454Ser
ENST00000448481.5:c.1351A>T ENSP00000409718.1:p.Thr451Ser
ENST00000450313.5:c.1402A>T ENSP00000408176.1:p.Thr468Ser
ENST00000456914.6:c.1318A>T ENSP00000407590.2:p.Thr440Ser
ENST00000467459.5:c.735A>T ENSP00000435889.1:n.735A>T
ENST00000475516.5:c.*1131A>T ENSP00000433843.1:n.*1131A>T
ENST00000481571.5:c.*1131A>T ENSP00000436597.1:n.*1131A>T
ENST00000482094.5:n.639A>T
ENST00000485271.5:c.15A>T
ENST00000488731.6:c.403A>T ENSP00000432330.1:p.Thr135Ser
ENST00000528013.6:c.1360A>T ENSP00000433130.2:p.Thr454Ser
ENST00000529892.5:c.393A>T
ENST00000529984.5:c.403A>T ENSP00000437093.1:p.Thr135Ser
ENST00000531105.5:c.116-1819A>T ENSP00000431292.1:n.116-1819A>T
ENST00000533178.5:c.947A>T ENSP00000436430.1:n.947A>T
NM_001048171.1:c.1360A>T NP_001041636.1:p.Thr454Ser
NM_001048172.1:c.1321A>T NP_001041637.1:p.Thr441Ser
NM_001048173.1:c.1318A>T NP_001041638.1:p.Thr440Ser
NM_001048174.1:c.1318A>T NP_001041639.1:p.Thr440Ser
NM_001128425.1:c.1402A>T , LRG_220t1:c.1402A>T NP_001121897.1:p.Thr468Ser
NM_001293190.1:c.1363A>T NP_001280119.1:p.Thr455Ser
NM_001293191.1:c.1351A>T NP_001280120.1:p.Thr451Ser
NM_001293192.1:c.1042A>T NP_001280121.1:p.Thr348Ser
NM_001293195.1:c.1318A>T NP_001280124.1:p.Thr440Ser
NM_001293196.1:c.1042A>T NP_001280125.1:p.Thr348Ser
NM_012222.2:c.1393A>T NP_036354.1:p.Thr465Ser
XM_011541497.1:c.1378A>T XP_011539799.1:p.Thr460Ser
XM_011541498.1:c.1360A>T XP_011539800.1:p.Thr454Ser
XM_011541499.1:c.1360A>T XP_011539801.1:p.Thr454Ser
XM_011541500.1:c.1360A>T XP_011539802.1:p.Thr454Ser
XM_011541501.1:c.1360A>T XP_011539803.1:p.Thr454Ser
XM_011541502.1:c.1360A>T XP_011539804.1:p.Thr454Ser
XM_011541503.1:c.1360A>T XP_011539805.1:p.Thr454Ser
XM_011541504.1:c.1351A>T XP_011539806.1:p.Thr451Ser
XM_011541505.1:c.940A>T XP_011539807.1:p.Thr314Ser
XM_011541506.1:c.940A>T XP_011539808.1:p.Thr314Ser
XM_011541507.1:c.931A>T XP_011539809.1:p.Thr311Ser
XM_011541508.1:c.946A>T XP_011539810.1:p.Thr316Ser
XR_946658.1:n.1449A>T
NM_001350650.1:c.973A>T NP_001337579.1:p.Thr325Ser
NM_001350651.1:c.973A>T NP_001337580.1:p.Thr325Ser
NR_146882.1:n.1576A>T
NR_146883.1:n.1390A>T
XM_011541497.3:c.1378A>T XP_011539799.1:p.Thr460Ser
XM_011541500.3:c.1360A>T XP_011539802.1:p.Thr454Ser
XM_011541501.2:c.1360A>T XP_011539803.1:p.Thr454Ser
XM_011541502.2:c.1360A>T XP_011539804.1:p.Thr454Ser
XM_011541503.2:c.1360A>T XP_011539805.1:p.Thr454Ser
XM_011541504.2:c.1351A>T XP_011539806.1:p.Thr451Ser
XM_011541505.2:c.940A>T XP_011539807.1:p.Thr314Ser
XM_011541506.2:c.940A>T XP_011539808.1:p.Thr314Ser
XM_017001331.1:c.1360A>T XP_016856820.1:p.Thr454Ser
XM_017001332.1:c.1360A>T XP_016856821.1:p.Thr454Ser
XM_017001333.1:c.1360A>T XP_016856822.1:p.Thr454Ser
XM_017001334.1:c.1321A>T XP_016856823.1:p.Thr441Ser
XM_017001335.1:c.1042A>T XP_016856824.1:p.Thr348Ser
XM_017001336.1:c.973A>T XP_016856825.1:p.Thr325Ser
XM_017001337.1:c.973A>T XP_016856826.1:p.Thr325Ser
XM_024447244.1:c.973A>T XP_024303012.1:p.Thr325Ser
XM_024447245.1:c.973A>T XP_024303013.1:p.Thr325Ser
XM_024447248.1:c.931A>T XP_024303016.1:p.Thr311Ser
XM_024447249.1:c.802A>T XP_024303017.1:p.Thr268Ser
XM_024447250.1:c.802A>T XP_024303018.1:p.Thr268Ser
XM_024447251.1:c.802A>T XP_024303019.1:p.Thr268Ser
XR_001737190.1:n.1363A>T
XR_001737192.1:n.1175A>T
XR_002956643.1:n.1355A>T
XR_002956644.1:n.1890A>T
XR_946658.2:n.1463A>T
NM_001048171.2:c.1318A>T NP_001041636.2:p.Thr440Ser
NM_001128425.2:c.1402A>T MANE Plus Clinical NP_001121897.1:p.Thr468Ser
NM_001048172.2:c.1321A>T NP_001041637.1:p.Thr441Ser
NM_001048173.2:c.1318A>T NP_001041638.1:p.Thr440Ser
NM_001048174.2:c.1318A>T MANE Select NP_001041639.1:p.Thr440Ser
NM_001293190.2:c.1363A>T NP_001280119.1:p.Thr455Ser
NM_001293191.2:c.1351A>T NP_001280120.1:p.Thr451Ser
NM_001293192.2:c.1042A>T NP_001280121.1:p.Thr348Ser
NM_001293195.2:c.1318A>T NP_001280124.1:p.Thr440Ser
NM_001293196.2:c.1042A>T NP_001280125.1:p.Thr348Ser
NM_001350650.2:c.973A>T NP_001337579.1:p.Thr325Ser
NM_001350651.2:c.973A>T NP_001337580.1:p.Thr325Ser
NM_012222.3:c.1393A>T NP_036354.1:p.Thr465Ser
NR_146882.2:n.1546A>T
NR_146883.2:n.1395A>T