Canonical Allele Identifier: CA340134629
Gene: MUTYH HGNC NCBI

Linked Data

gnomAD v4: 1-45332261-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332261G>A , CM000663.2:g.45332261G>A GRCh38
NC_000001.10:g.45797933G>A , CM000663.1:g.45797933G>A GRCh37
NC_000001.9:g.45570520G>A NCBI36
NG_008189.1:g.13210C>T , LRG_220:g.13210C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.370C>T ENSP00000410263.2:p.Gln124Ter
ENST00000435155.2:c.787C>T ENSP00000403655.2:p.Gln263Ter
ENST00000467459.6:c.754C>T ENSP00000435889.2:p.Gln252Ter
ENST00000483127.2:c.772C>T ENSP00000436469.2:p.Gln258Ter
ENST00000485271.6:c.754C>T ENSP00000431264.2:p.Gln252Ter
ENST00000529892.6:c.796C>T ENSP00000432528.2:p.Gln266Ter
ENST00000533178.6:c.*83C>T ENSP00000436430.2:n.*83C>T
ENST00000672314.2:c.754C>T ENSP00000500828.2:p.Gln252Ter
ENST00000674679.2:c.*666C>T ENSP00000501623.2:n.*666C>T
ENST00000710952.2:c.838C>T MANE Plus Clinical ENSP00000518552.2:p.Gln280Ter
ENST00000672818.3:c.829C>T ENSP00000500891.1:p.Gln277Ter
ENST00000450313.6:c.*83C>T ENSP00000408176.2:n.*83C>T
ENST00000456914.7:c.754C>T MANE Select ENSP00000407590.2:p.Gln252Ter
ENST00000461495.6:c.*493C>T ENSP00000437166.1:n.*493C>T
ENST00000671898.1:c.1342C>T ENSP00000499896.1:p.Gln448Ter
ENST00000672011.1:c.*83C>T ENSP00000500418.1:n.*83C>T
ENST00000672314.1:c.754C>T ENSP00000500828.1:p.Gln252Ter
ENST00000672593.1:c.*807C>T ENSP00000500455.1:n.*807C>T
ENST00000672764.1:c.*83C>T ENSP00000500886.1:n.*83C>T
ENST00000672818.2:c.829C>T ENSP00000500891.1:p.Gln277Ter
ENST00000673134.1:c.*451C>T ENSP00000500526.1:n.*451C>T
ENST00000674679.1:c.782C>T ENSP00000501623.1:n.782C>T
ENST00000354383.10:c.757C>T ENSP00000346354.6:p.Gln253Ter
ENST00000355498.6:c.754C>T ENSP00000347685.2:p.Gln252Ter
ENST00000372098.7:c.829C>T ENSP00000361170.3:p.Gln277Ter
ENST00000372104.5:c.754C>T ENSP00000361176.1:p.Gln252Ter
ENST00000372110.7:c.799C>T ENSP00000361182.3:p.Gln267Ter
ENST00000372115.7:c.796C>T ENSP00000361187.3:p.Gln266Ter
ENST00000412971.5:c.370C>T ENSP00000410263.1:p.Gln124Ter
ENST00000435155.1:c.787C>T ENSP00000403655.1:p.Gln263Ter
ENST00000448481.5:c.787C>T ENSP00000409718.1:p.Gln263Ter
ENST00000450313.5:c.838C>T ENSP00000408176.1:p.Gln280Ter
ENST00000456914.6:c.754C>T ENSP00000407590.2:p.Gln252Ter
ENST00000461495.5:c.*493C>T ENSP00000437166.1:n.*493C>T
ENST00000462388.5:n.445C>T
ENST00000466231.1:n.119C>T
ENST00000467459.5:c.148C>T ENSP00000435889.1:p.Gln50Ter
ENST00000467940.5:c.*677C>T ENSP00000436478.1:n.*677C>T
ENST00000470256.5:c.*83C>T ENSP00000434985.1:n.*83C>T
ENST00000475516.5:c.*567C>T ENSP00000433843.1:n.*567C>T
ENST00000478796.5:n.741C>T
ENST00000481571.5:c.*567C>T ENSP00000436597.1:n.*567C>T
ENST00000488731.6:c.187+502C>T ENSP00000432330.1:n.187+502C>T
ENST00000528013.6:c.796C>T ENSP00000433130.2:p.Gln266Ter
ENST00000529892.5:c.18C>T
ENST00000529984.5:c.187+502C>T ENSP00000437093.1:n.187+502C>T
ENST00000531105.5:c.115+2130C>T ENSP00000431292.1:n.115+2130C>T
ENST00000533178.5:c.383C>T ENSP00000436430.1:n.383C>T
NM_001048171.1:c.796C>T NP_001041636.1:p.Gln266Ter
NM_001048172.1:c.757C>T NP_001041637.1:p.Gln253Ter
NM_001048173.1:c.754C>T NP_001041638.1:p.Gln252Ter
NM_001048174.1:c.754C>T NP_001041639.1:p.Gln252Ter
NM_001128425.1:c.838C>T , LRG_220t1:c.838C>T NP_001121897.1:p.Gln280Ter
NM_001293190.1:c.799C>T NP_001280119.1:p.Gln267Ter
NM_001293191.1:c.787C>T NP_001280120.1:p.Gln263Ter
NM_001293192.1:c.478C>T NP_001280121.1:p.Gln160Ter
NM_001293195.1:c.754C>T NP_001280124.1:p.Gln252Ter
NM_001293196.1:c.478C>T NP_001280125.1:p.Gln160Ter
NM_012222.2:c.829C>T NP_036354.1:p.Gln277Ter
XM_011541497.1:c.814C>T XP_011539799.1:p.Gln272Ter
XM_011541498.1:c.796C>T XP_011539800.1:p.Gln266Ter
XM_011541499.1:c.796C>T XP_011539801.1:p.Gln266Ter
XM_011541500.1:c.796C>T XP_011539802.1:p.Gln266Ter
XM_011541501.1:c.796C>T XP_011539803.1:p.Gln266Ter
XM_011541502.1:c.796C>T XP_011539804.1:p.Gln266Ter
XM_011541503.1:c.796C>T XP_011539805.1:p.Gln266Ter
XM_011541504.1:c.787C>T XP_011539806.1:p.Gln263Ter
XM_011541505.1:c.376C>T XP_011539807.1:p.Gln126Ter
XM_011541506.1:c.376C>T XP_011539808.1:p.Gln126Ter
XM_011541507.1:c.367C>T XP_011539809.1:p.Gln123Ter
XM_011541508.1:c.382C>T XP_011539810.1:p.Gln128Ter
XR_946658.1:n.885C>T
NM_001350650.1:c.409C>T NP_001337579.1:p.Gln137Ter
NM_001350651.1:c.409C>T NP_001337580.1:p.Gln137Ter
NR_146882.1:n.1012C>T
NR_146883.1:n.826C>T
XM_011541497.3:c.814C>T XP_011539799.1:p.Gln272Ter
XM_011541500.3:c.796C>T XP_011539802.1:p.Gln266Ter
XM_011541501.2:c.796C>T XP_011539803.1:p.Gln266Ter
XM_011541502.2:c.796C>T XP_011539804.1:p.Gln266Ter
XM_011541503.2:c.796C>T XP_011539805.1:p.Gln266Ter
XM_011541504.2:c.787C>T XP_011539806.1:p.Gln263Ter
XM_011541505.2:c.376C>T XP_011539807.1:p.Gln126Ter
XM_011541506.2:c.376C>T XP_011539808.1:p.Gln126Ter
XM_017001331.1:c.796C>T XP_016856820.1:p.Gln266Ter
XM_017001332.1:c.796C>T XP_016856821.1:p.Gln266Ter
XM_017001333.1:c.796C>T XP_016856822.1:p.Gln266Ter
XM_017001334.1:c.757C>T XP_016856823.1:p.Gln253Ter
XM_017001335.1:c.478C>T XP_016856824.1:p.Gln160Ter
XM_017001336.1:c.409C>T XP_016856825.1:p.Gln137Ter
XM_017001337.1:c.409C>T XP_016856826.1:p.Gln137Ter
XM_024447244.1:c.409C>T XP_024303012.1:p.Gln137Ter
XM_024447245.1:c.409C>T XP_024303013.1:p.Gln137Ter
XM_024447248.1:c.367C>T XP_024303016.1:p.Gln123Ter
XM_024447249.1:c.238C>T XP_024303017.1:p.Gln80Ter
XM_024447250.1:c.238C>T XP_024303018.1:p.Gln80Ter
XM_024447251.1:c.238C>T XP_024303019.1:p.Gln80Ter
XR_001737190.1:n.799C>T
XR_001737192.1:n.611C>T
XR_002956643.1:n.791C>T
XR_002956644.1:n.1326C>T
XR_946658.2:n.899C>T
NM_001048171.2:c.754C>T NP_001041636.2:p.Gln252Ter
NM_001128425.2:c.838C>T MANE Plus Clinical NP_001121897.1:p.Gln280Ter
NM_001048172.2:c.757C>T NP_001041637.1:p.Gln253Ter
NM_001048173.2:c.754C>T NP_001041638.1:p.Gln252Ter
NM_001048174.2:c.754C>T MANE Select NP_001041639.1:p.Gln252Ter
NM_001293190.2:c.799C>T NP_001280119.1:p.Gln267Ter
NM_001293191.2:c.787C>T NP_001280120.1:p.Gln263Ter
NM_001293192.2:c.478C>T NP_001280121.1:p.Gln160Ter
NM_001293195.2:c.754C>T NP_001280124.1:p.Gln252Ter
NM_001293196.2:c.478C>T NP_001280125.1:p.Gln160Ter
NM_001350650.2:c.409C>T NP_001337579.1:p.Gln137Ter
NM_001350651.2:c.409C>T NP_001337580.1:p.Gln137Ter
NM_012222.3:c.829C>T NP_036354.1:p.Gln277Ter
NR_146882.2:n.982C>T
NR_146883.2:n.831C>T