Canonical Allele Identifier: CA340134526
Gene: MUTYH HGNC NCBI

Linked Data

gnomAD v4: 1-45332233-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332233A>C , CM000663.2:g.45332233A>C GRCh38
NC_000001.10:g.45797905A>C , CM000663.1:g.45797905A>C GRCh37
NC_000001.9:g.45570492A>C NCBI36
NG_008189.1:g.13238T>G , LRG_220:g.13238T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.398T>G ENSP00000410263.2:p.Val133Gly
ENST00000435155.2:c.815T>G ENSP00000403655.2:p.Val272Gly
ENST00000467459.6:c.782T>G ENSP00000435889.2:p.Val261Gly
ENST00000483127.2:c.800T>G ENSP00000436469.2:p.Val267Gly
ENST00000485271.6:c.782T>G ENSP00000431264.2:p.Val261Gly
ENST00000529892.6:c.824T>G ENSP00000432528.2:p.Val275Gly
ENST00000533178.6:c.*111T>G ENSP00000436430.2:n.*111T>G
ENST00000672314.2:c.782T>G ENSP00000500828.2:p.Val261Gly
ENST00000674679.2:c.*694T>G ENSP00000501623.2:n.*694T>G
ENST00000710952.2:c.866T>G MANE Plus Clinical ENSP00000518552.2:p.Val289Gly
ENST00000672818.3:c.857T>G ENSP00000500891.1:p.Val286Gly
ENST00000450313.6:c.*111T>G ENSP00000408176.2:n.*111T>G
ENST00000456914.7:c.782T>G MANE Select ENSP00000407590.2:p.Val261Gly
ENST00000461495.6:c.*521T>G ENSP00000437166.1:n.*521T>G
ENST00000671898.1:c.1370T>G ENSP00000499896.1:p.Val457Gly
ENST00000672011.1:c.*111T>G ENSP00000500418.1:n.*111T>G
ENST00000672314.1:c.782T>G ENSP00000500828.1:p.Val261Gly
ENST00000672593.1:c.*835T>G ENSP00000500455.1:n.*835T>G
ENST00000672764.1:c.*111T>G ENSP00000500886.1:n.*111T>G
ENST00000672818.2:c.857T>G ENSP00000500891.1:p.Val286Gly
ENST00000673134.1:c.*479T>G ENSP00000500526.1:n.*479T>G
ENST00000674679.1:c.810T>G ENSP00000501623.1:n.810T>G
ENST00000354383.10:c.785T>G ENSP00000346354.6:p.Val262Gly
ENST00000355498.6:c.782T>G ENSP00000347685.2:p.Val261Gly
ENST00000372098.7:c.857T>G ENSP00000361170.3:p.Val286Gly
ENST00000372104.5:c.782T>G ENSP00000361176.1:p.Val261Gly
ENST00000372110.7:c.827T>G ENSP00000361182.3:p.Val276Gly
ENST00000372115.7:c.824T>G ENSP00000361187.3:p.Val275Gly
ENST00000412971.5:c.398T>G ENSP00000410263.1:p.Val133Gly
ENST00000435155.1:c.815T>G ENSP00000403655.1:p.Val272Gly
ENST00000448481.5:c.815T>G ENSP00000409718.1:p.Val272Gly
ENST00000450313.5:c.866T>G ENSP00000408176.1:p.Val289Gly
ENST00000456914.6:c.782T>G ENSP00000407590.2:p.Val261Gly
ENST00000461495.5:c.*521T>G ENSP00000437166.1:n.*521T>G
ENST00000462388.5:n.473T>G
ENST00000466231.1:n.147T>G
ENST00000467459.5:c.176T>G ENSP00000435889.1:p.Val59Gly
ENST00000467940.5:c.*705T>G ENSP00000436478.1:n.*705T>G
ENST00000470256.5:c.*111T>G ENSP00000434985.1:n.*111T>G
ENST00000475516.5:c.*595T>G ENSP00000433843.1:n.*595T>G
ENST00000478796.5:n.769T>G
ENST00000481571.5:c.*595T>G ENSP00000436597.1:n.*595T>G
ENST00000488731.6:c.187+530T>G ENSP00000432330.1:n.187+530T>G
ENST00000528013.6:c.824T>G ENSP00000433130.2:p.Val275Gly
ENST00000529892.5:c.46T>G
ENST00000529984.5:c.187+530T>G ENSP00000437093.1:n.187+530T>G
ENST00000531105.5:c.115+2158T>G ENSP00000431292.1:n.115+2158T>G
ENST00000533178.5:c.411T>G ENSP00000436430.1:n.411T>G
NM_001048171.1:c.824T>G NP_001041636.1:p.Val275Gly
NM_001048172.1:c.785T>G NP_001041637.1:p.Val262Gly
NM_001048173.1:c.782T>G NP_001041638.1:p.Val261Gly
NM_001048174.1:c.782T>G NP_001041639.1:p.Val261Gly
NM_001128425.1:c.866T>G , LRG_220t1:c.866T>G NP_001121897.1:p.Val289Gly
NM_001293190.1:c.827T>G NP_001280119.1:p.Val276Gly
NM_001293191.1:c.815T>G NP_001280120.1:p.Val272Gly
NM_001293192.1:c.506T>G NP_001280121.1:p.Val169Gly
NM_001293195.1:c.782T>G NP_001280124.1:p.Val261Gly
NM_001293196.1:c.506T>G NP_001280125.1:p.Val169Gly
NM_012222.2:c.857T>G NP_036354.1:p.Val286Gly
XM_011541497.1:c.842T>G XP_011539799.1:p.Val281Gly
XM_011541498.1:c.824T>G XP_011539800.1:p.Val275Gly
XM_011541499.1:c.824T>G XP_011539801.1:p.Val275Gly
XM_011541500.1:c.824T>G XP_011539802.1:p.Val275Gly
XM_011541501.1:c.824T>G XP_011539803.1:p.Val275Gly
XM_011541502.1:c.824T>G XP_011539804.1:p.Val275Gly
XM_011541503.1:c.824T>G XP_011539805.1:p.Val275Gly
XM_011541504.1:c.815T>G XP_011539806.1:p.Val272Gly
XM_011541505.1:c.404T>G XP_011539807.1:p.Val135Gly
XM_011541506.1:c.404T>G XP_011539808.1:p.Val135Gly
XM_011541507.1:c.395T>G XP_011539809.1:p.Val132Gly
XM_011541508.1:c.410T>G XP_011539810.1:p.Val137Gly
XR_946658.1:n.913T>G
NM_001350650.1:c.437T>G NP_001337579.1:p.Val146Gly
NM_001350651.1:c.437T>G NP_001337580.1:p.Val146Gly
NR_146882.1:n.1040T>G
NR_146883.1:n.854T>G
XM_011541497.3:c.842T>G XP_011539799.1:p.Val281Gly
XM_011541500.3:c.824T>G XP_011539802.1:p.Val275Gly
XM_011541501.2:c.824T>G XP_011539803.1:p.Val275Gly
XM_011541502.2:c.824T>G XP_011539804.1:p.Val275Gly
XM_011541503.2:c.824T>G XP_011539805.1:p.Val275Gly
XM_011541504.2:c.815T>G XP_011539806.1:p.Val272Gly
XM_011541505.2:c.404T>G XP_011539807.1:p.Val135Gly
XM_011541506.2:c.404T>G XP_011539808.1:p.Val135Gly
XM_017001331.1:c.824T>G XP_016856820.1:p.Val275Gly
XM_017001332.1:c.824T>G XP_016856821.1:p.Val275Gly
XM_017001333.1:c.824T>G XP_016856822.1:p.Val275Gly
XM_017001334.1:c.785T>G XP_016856823.1:p.Val262Gly
XM_017001335.1:c.506T>G XP_016856824.1:p.Val169Gly
XM_017001336.1:c.437T>G XP_016856825.1:p.Val146Gly
XM_017001337.1:c.437T>G XP_016856826.1:p.Val146Gly
XM_024447244.1:c.437T>G XP_024303012.1:p.Val146Gly
XM_024447245.1:c.437T>G XP_024303013.1:p.Val146Gly
XM_024447248.1:c.395T>G XP_024303016.1:p.Val132Gly
XM_024447249.1:c.266T>G XP_024303017.1:p.Val89Gly
XM_024447250.1:c.266T>G XP_024303018.1:p.Val89Gly
XM_024447251.1:c.266T>G XP_024303019.1:p.Val89Gly
XR_001737190.1:n.827T>G
XR_001737192.1:n.639T>G
XR_002956643.1:n.819T>G
XR_002956644.1:n.1354T>G
XR_946658.2:n.927T>G
NM_001048171.2:c.782T>G NP_001041636.2:p.Val261Gly
NM_001128425.2:c.866T>G MANE Plus Clinical NP_001121897.1:p.Val289Gly
NM_001048172.2:c.785T>G NP_001041637.1:p.Val262Gly
NM_001048173.2:c.782T>G NP_001041638.1:p.Val261Gly
NM_001048174.2:c.782T>G MANE Select NP_001041639.1:p.Val261Gly
NM_001293190.2:c.827T>G NP_001280119.1:p.Val276Gly
NM_001293191.2:c.815T>G NP_001280120.1:p.Val272Gly
NM_001293192.2:c.506T>G NP_001280121.1:p.Val169Gly
NM_001293195.2:c.782T>G NP_001280124.1:p.Val261Gly
NM_001293196.2:c.506T>G NP_001280125.1:p.Val169Gly
NM_001350650.2:c.437T>G NP_001337579.1:p.Val146Gly
NM_001350651.2:c.437T>G NP_001337580.1:p.Val146Gly
NM_012222.3:c.857T>G NP_036354.1:p.Val286Gly
NR_146882.2:n.1010T>G
NR_146883.2:n.859T>G