Canonical Allele Identifier: CA014438
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 134857
dbSNP Id: rs587778534
gnomAD v2: 1-45797935-T-G
gnomAD v3: 1-45332263-T-G
gnomAD v4: 1-45332263-T-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332263T>G , CM000663.2:g.45332263T>G GRCh38
NC_000001.10:g.45797935T>G , CM000663.1:g.45797935T>G GRCh37
NC_000001.9:g.45570522T>G NCBI36
NG_008189.1:g.13208A>C , LRG_220:g.13208A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.368A>C ENSP00000410263.2:p.Asn123Thr
ENST00000435155.2:c.785A>C ENSP00000403655.2:p.Asn262Thr
ENST00000467459.6:c.752A>C ENSP00000435889.2:p.Asn251Thr
ENST00000483127.2:c.770A>C ENSP00000436469.2:p.Asn257Thr
ENST00000485271.6:c.752A>C ENSP00000431264.2:p.Asn251Thr
ENST00000529892.6:c.794A>C ENSP00000432528.2:p.Asn265Thr
ENST00000533178.6:c.*81A>C ENSP00000436430.2:n.*81A>C
ENST00000672314.2:c.752A>C ENSP00000500828.2:p.Asn251Thr
ENST00000674679.2:c.*664A>C ENSP00000501623.2:n.*664A>C
ENST00000710952.2:c.836A>C MANE Plus Clinical ENSP00000518552.2:p.Asn279Thr
ENST00000672818.3:c.827A>C ENSP00000500891.1:p.Asn276Thr
ENST00000450313.6:c.*81A>C ENSP00000408176.2:n.*81A>C
ENST00000456914.7:c.752A>C MANE Select ENSP00000407590.2:p.Asn251Thr
ENST00000461495.6:c.*491A>C ENSP00000437166.1:n.*491A>C
ENST00000671898.1:c.1340A>C ENSP00000499896.1:p.Asn447Thr
ENST00000672011.1:c.*81A>C ENSP00000500418.1:n.*81A>C
ENST00000672314.1:c.752A>C ENSP00000500828.1:p.Asn251Thr
ENST00000672593.1:c.*805A>C ENSP00000500455.1:n.*805A>C
ENST00000672764.1:c.*81A>C ENSP00000500886.1:n.*81A>C
ENST00000672818.2:c.827A>C ENSP00000500891.1:p.Asn276Thr
ENST00000673134.1:c.*449A>C ENSP00000500526.1:n.*449A>C
ENST00000674679.1:c.780A>C ENSP00000501623.1:n.780A>C
ENST00000354383.10:c.755A>C ENSP00000346354.6:p.Asn252Thr
ENST00000355498.6:c.752A>C ENSP00000347685.2:p.Asn251Thr
ENST00000372098.7:c.827A>C ENSP00000361170.3:p.Asn276Thr
ENST00000372104.5:c.752A>C ENSP00000361176.1:p.Asn251Thr
ENST00000372110.7:c.797A>C ENSP00000361182.3:p.Asn266Thr
ENST00000372115.7:c.794A>C ENSP00000361187.3:p.Asn265Thr
ENST00000412971.5:c.368A>C ENSP00000410263.1:p.Asn123Thr
ENST00000435155.1:c.785A>C ENSP00000403655.1:p.Asn262Thr
ENST00000448481.5:c.785A>C ENSP00000409718.1:p.Asn262Thr
ENST00000450313.5:c.836A>C ENSP00000408176.1:p.Asn279Thr
ENST00000456914.6:c.752A>C ENSP00000407590.2:p.Asn251Thr
ENST00000461495.5:c.*491A>C ENSP00000437166.1:n.*491A>C
ENST00000462388.5:n.443A>C
ENST00000466231.1:n.117A>C
ENST00000467459.5:c.146A>C ENSP00000435889.1:p.Asn49Thr
ENST00000467940.5:c.*675A>C ENSP00000436478.1:n.*675A>C
ENST00000470256.5:c.*81A>C ENSP00000434985.1:n.*81A>C
ENST00000475516.5:c.*565A>C ENSP00000433843.1:n.*565A>C
ENST00000478796.5:n.739A>C
ENST00000481571.5:c.*565A>C ENSP00000436597.1:n.*565A>C
ENST00000488731.6:c.187+500A>C ENSP00000432330.1:n.187+500A>C
ENST00000528013.6:c.794A>C ENSP00000433130.2:p.Asn265Thr
ENST00000529892.5:c.16A>C
ENST00000529984.5:c.187+500A>C ENSP00000437093.1:n.187+500A>C
ENST00000531105.5:c.115+2128A>C ENSP00000431292.1:n.115+2128A>C
ENST00000533178.5:c.381A>C ENSP00000436430.1:n.381A>C
NM_001048171.1:c.794A>C NP_001041636.1:p.Asn265Thr
NM_001048172.1:c.755A>C NP_001041637.1:p.Asn252Thr
NM_001048173.1:c.752A>C NP_001041638.1:p.Asn251Thr
NM_001048174.1:c.752A>C NP_001041639.1:p.Asn251Thr
NM_001128425.1:c.836A>C , LRG_220t1:c.836A>C NP_001121897.1:p.Asn279Thr
NM_001293190.1:c.797A>C NP_001280119.1:p.Asn266Thr
NM_001293191.1:c.785A>C NP_001280120.1:p.Asn262Thr
NM_001293192.1:c.476A>C NP_001280121.1:p.Asn159Thr
NM_001293195.1:c.752A>C NP_001280124.1:p.Asn251Thr
NM_001293196.1:c.476A>C NP_001280125.1:p.Asn159Thr
NM_012222.2:c.827A>C NP_036354.1:p.Asn276Thr
XM_011541497.1:c.812A>C XP_011539799.1:p.Asn271Thr
XM_011541498.1:c.794A>C XP_011539800.1:p.Asn265Thr
XM_011541499.1:c.794A>C XP_011539801.1:p.Asn265Thr
XM_011541500.1:c.794A>C XP_011539802.1:p.Asn265Thr
XM_011541501.1:c.794A>C XP_011539803.1:p.Asn265Thr
XM_011541502.1:c.794A>C XP_011539804.1:p.Asn265Thr
XM_011541503.1:c.794A>C XP_011539805.1:p.Asn265Thr
XM_011541504.1:c.785A>C XP_011539806.1:p.Asn262Thr
XM_011541505.1:c.374A>C XP_011539807.1:p.Asn125Thr
XM_011541506.1:c.374A>C XP_011539808.1:p.Asn125Thr
XM_011541507.1:c.365A>C XP_011539809.1:p.Asn122Thr
XM_011541508.1:c.380A>C XP_011539810.1:p.Asn127Thr
XR_946658.1:n.883A>C
NM_001350650.1:c.407A>C NP_001337579.1:p.Asn136Thr
NM_001350651.1:c.407A>C NP_001337580.1:p.Asn136Thr
NR_146882.1:n.1010A>C
NR_146883.1:n.824A>C
XM_011541497.3:c.812A>C XP_011539799.1:p.Asn271Thr
XM_011541500.3:c.794A>C XP_011539802.1:p.Asn265Thr
XM_011541501.2:c.794A>C XP_011539803.1:p.Asn265Thr
XM_011541502.2:c.794A>C XP_011539804.1:p.Asn265Thr
XM_011541503.2:c.794A>C XP_011539805.1:p.Asn265Thr
XM_011541504.2:c.785A>C XP_011539806.1:p.Asn262Thr
XM_011541505.2:c.374A>C XP_011539807.1:p.Asn125Thr
XM_011541506.2:c.374A>C XP_011539808.1:p.Asn125Thr
XM_017001331.1:c.794A>C XP_016856820.1:p.Asn265Thr
XM_017001332.1:c.794A>C XP_016856821.1:p.Asn265Thr
XM_017001333.1:c.794A>C XP_016856822.1:p.Asn265Thr
XM_017001334.1:c.755A>C XP_016856823.1:p.Asn252Thr
XM_017001335.1:c.476A>C XP_016856824.1:p.Asn159Thr
XM_017001336.1:c.407A>C XP_016856825.1:p.Asn136Thr
XM_017001337.1:c.407A>C XP_016856826.1:p.Asn136Thr
XM_024447244.1:c.407A>C XP_024303012.1:p.Asn136Thr
XM_024447245.1:c.407A>C XP_024303013.1:p.Asn136Thr
XM_024447248.1:c.365A>C XP_024303016.1:p.Asn122Thr
XM_024447249.1:c.236A>C XP_024303017.1:p.Asn79Thr
XM_024447250.1:c.236A>C XP_024303018.1:p.Asn79Thr
XM_024447251.1:c.236A>C XP_024303019.1:p.Asn79Thr
XR_001737190.1:n.797A>C
XR_001737192.1:n.609A>C
XR_002956643.1:n.789A>C
XR_002956644.1:n.1324A>C
XR_946658.2:n.897A>C
NM_001048171.2:c.752A>C NP_001041636.2:p.Asn251Thr
NM_001128425.2:c.836A>C MANE Plus Clinical NP_001121897.1:p.Asn279Thr
NM_001048172.2:c.755A>C NP_001041637.1:p.Asn252Thr
NM_001048173.2:c.752A>C NP_001041638.1:p.Asn251Thr
NM_001048174.2:c.752A>C MANE Select NP_001041639.1:p.Asn251Thr
NM_001293190.2:c.797A>C NP_001280119.1:p.Asn266Thr
NM_001293191.2:c.785A>C NP_001280120.1:p.Asn262Thr
NM_001293192.2:c.476A>C NP_001280121.1:p.Asn159Thr
NM_001293195.2:c.752A>C NP_001280124.1:p.Asn251Thr
NM_001293196.2:c.476A>C NP_001280125.1:p.Asn159Thr
NM_001350650.2:c.407A>C NP_001337579.1:p.Asn136Thr
NM_001350651.2:c.407A>C NP_001337580.1:p.Asn136Thr
NM_012222.3:c.827A>C NP_036354.1:p.Asn276Thr
NR_146882.2:n.980A>C
NR_146883.2:n.829A>C