Canonical Allele Identifier: CA059057
Gene: MUTYH HGNC NCBI

Linked Data

ClinVar Variation Id: 827282
ClinVar RCV Id: RCV001026865
dbSNP Id: rs765339120
gnomAD v2: 1-45798068-C-G
gnomAD v4: 1-45332396-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.45332396C>G , CM000663.2:g.45332396C>G GRCh38
NC_000001.10:g.45798068C>G , CM000663.1:g.45798068C>G GRCh37
NC_000001.9:g.45570655C>G NCBI36
NG_008189.1:g.13075G>C , LRG_220:g.13075G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000412971.6:c.315G>C ENSP00000410263.2:p.Gln105His
ENST00000435155.2:c.732G>C ENSP00000403655.2:p.Gln244His
ENST00000467459.6:c.699G>C ENSP00000435889.2:p.Gln233His
ENST00000483127.2:c.717G>C ENSP00000436469.2:p.Gln239His
ENST00000485271.6:c.699G>C ENSP00000431264.2:p.Gln233His
ENST00000529892.6:c.741G>C ENSP00000432528.2:p.Gln247His
ENST00000533178.6:c.*28G>C ENSP00000436430.2:n.*28G>C
ENST00000672314.2:c.699G>C ENSP00000500828.2:p.Gln233His
ENST00000674679.2:c.*611G>C ENSP00000501623.2:n.*611G>C
ENST00000710952.2:c.783G>C MANE Plus Clinical ENSP00000518552.2:p.Gln261His
ENST00000672818.3:c.774G>C ENSP00000500891.1:p.Gln258His
ENST00000450313.6:c.*28G>C ENSP00000408176.2:n.*28G>C
ENST00000456914.7:c.699G>C MANE Select ENSP00000407590.2:p.Gln233His
ENST00000461495.6:c.*438G>C ENSP00000437166.1:n.*438G>C
ENST00000671898.1:c.1287G>C ENSP00000499896.1:p.Gln429His
ENST00000672011.1:c.*28G>C ENSP00000500418.1:n.*28G>C
ENST00000672314.1:c.699G>C ENSP00000500828.1:p.Gln233His
ENST00000672593.1:c.*672G>C ENSP00000500455.1:n.*672G>C
ENST00000672764.1:c.*28G>C ENSP00000500886.1:n.*28G>C
ENST00000672818.2:c.774G>C ENSP00000500891.1:p.Gln258His
ENST00000673134.1:c.*396G>C ENSP00000500526.1:n.*396G>C
ENST00000674679.1:c.727G>C ENSP00000501623.1:n.727G>C
ENST00000354383.10:c.702G>C ENSP00000346354.6:p.Gln234His
ENST00000355498.6:c.699G>C ENSP00000347685.2:p.Gln233His
ENST00000372098.7:c.774G>C ENSP00000361170.3:p.Gln258His
ENST00000372104.5:c.699G>C ENSP00000361176.1:p.Gln233His
ENST00000372110.7:c.744G>C ENSP00000361182.3:p.Gln248His
ENST00000372115.7:c.741G>C ENSP00000361187.3:p.Gln247His
ENST00000412971.5:c.315G>C ENSP00000410263.1:p.Gln105His
ENST00000435155.1:c.732G>C ENSP00000403655.1:p.Gln244His
ENST00000448481.5:c.732G>C ENSP00000409718.1:p.Gln244His
ENST00000450313.5:c.783G>C ENSP00000408176.1:p.Gln261His
ENST00000456914.6:c.699G>C ENSP00000407590.2:p.Gln233His
ENST00000461495.5:c.*438G>C ENSP00000437166.1:n.*438G>C
ENST00000462388.5:n.390G>C
ENST00000467459.5:c.93G>C ENSP00000435889.1:p.Gln31His
ENST00000467940.5:c.*622G>C ENSP00000436478.1:n.*622G>C
ENST00000470256.5:c.*28G>C ENSP00000434985.1:n.*28G>C
ENST00000475516.5:c.*512G>C ENSP00000433843.1:n.*512G>C
ENST00000478796.5:n.686G>C
ENST00000481571.5:c.*512G>C ENSP00000436597.1:n.*512G>C
ENST00000488731.6:c.187+367G>C ENSP00000432330.1:n.187+367G>C
ENST00000528013.6:c.741G>C ENSP00000433130.2:p.Gln247His
ENST00000529984.5:c.187+367G>C ENSP00000437093.1:n.187+367G>C
ENST00000531105.5:c.115+1995G>C ENSP00000431292.1:n.115+1995G>C
ENST00000533178.5:c.328G>C ENSP00000436430.1:n.328G>C
NM_001048171.1:c.741G>C NP_001041636.1:p.Gln247His
NM_001048172.1:c.702G>C NP_001041637.1:p.Gln234His
NM_001048173.1:c.699G>C NP_001041638.1:p.Gln233His
NM_001048174.1:c.699G>C NP_001041639.1:p.Gln233His
NM_001128425.1:c.783G>C , LRG_220t1:c.783G>C NP_001121897.1:p.Gln261His
NM_001293190.1:c.744G>C NP_001280119.1:p.Gln248His
NM_001293191.1:c.732G>C NP_001280120.1:p.Gln244His
NM_001293192.1:c.423G>C NP_001280121.1:p.Gln141His
NM_001293195.1:c.699G>C NP_001280124.1:p.Gln233His
NM_001293196.1:c.423G>C NP_001280125.1:p.Gln141His
NM_012222.2:c.774G>C NP_036354.1:p.Gln258His
XM_011541497.1:c.759G>C XP_011539799.1:p.Gln253His
XM_011541498.1:c.741G>C XP_011539800.1:p.Gln247His
XM_011541499.1:c.741G>C XP_011539801.1:p.Gln247His
XM_011541500.1:c.741G>C XP_011539802.1:p.Gln247His
XM_011541501.1:c.741G>C XP_011539803.1:p.Gln247His
XM_011541502.1:c.741G>C XP_011539804.1:p.Gln247His
XM_011541503.1:c.741G>C XP_011539805.1:p.Gln247His
XM_011541504.1:c.732G>C XP_011539806.1:p.Gln244His
XM_011541505.1:c.321G>C XP_011539807.1:p.Gln107His
XM_011541506.1:c.321G>C XP_011539808.1:p.Gln107His
XM_011541507.1:c.312G>C XP_011539809.1:p.Gln104His
XM_011541508.1:c.327G>C XP_011539810.1:p.Gln109His
XR_946658.1:n.830G>C
NM_001350650.1:c.354G>C NP_001337579.1:p.Gln118His
NM_001350651.1:c.354G>C NP_001337580.1:p.Gln118His
NR_146882.1:n.957G>C
NR_146883.1:n.771G>C
XM_011541497.3:c.759G>C XP_011539799.1:p.Gln253His
XM_011541500.3:c.741G>C XP_011539802.1:p.Gln247His
XM_011541501.2:c.741G>C XP_011539803.1:p.Gln247His
XM_011541502.2:c.741G>C XP_011539804.1:p.Gln247His
XM_011541503.2:c.741G>C XP_011539805.1:p.Gln247His
XM_011541504.2:c.732G>C XP_011539806.1:p.Gln244His
XM_011541505.2:c.321G>C XP_011539807.1:p.Gln107His
XM_011541506.2:c.321G>C XP_011539808.1:p.Gln107His
XM_017001331.1:c.741G>C XP_016856820.1:p.Gln247His
XM_017001332.1:c.741G>C XP_016856821.1:p.Gln247His
XM_017001333.1:c.741G>C XP_016856822.1:p.Gln247His
XM_017001334.1:c.702G>C XP_016856823.1:p.Gln234His
XM_017001335.1:c.423G>C XP_016856824.1:p.Gln141His
XM_017001336.1:c.354G>C XP_016856825.1:p.Gln118His
XM_017001337.1:c.354G>C XP_016856826.1:p.Gln118His
XM_024447244.1:c.354G>C XP_024303012.1:p.Gln118His
XM_024447245.1:c.354G>C XP_024303013.1:p.Gln118His
XM_024447248.1:c.312G>C XP_024303016.1:p.Gln104His
XM_024447249.1:c.183G>C XP_024303017.1:p.Gln61His
XM_024447250.1:c.183G>C XP_024303018.1:p.Gln61His
XM_024447251.1:c.183G>C XP_024303019.1:p.Gln61His
XR_001737190.1:n.744G>C
XR_001737192.1:n.556G>C
XR_002956643.1:n.736G>C
XR_002956644.1:n.1271G>C
XR_946658.2:n.844G>C
NM_001048171.2:c.699G>C NP_001041636.2:p.Gln233His
NM_001128425.2:c.783G>C MANE Plus Clinical NP_001121897.1:p.Gln261His
NM_001048172.2:c.702G>C NP_001041637.1:p.Gln234His
NM_001048173.2:c.699G>C NP_001041638.1:p.Gln233His
NM_001048174.2:c.699G>C MANE Select NP_001041639.1:p.Gln233His
NM_001293190.2:c.744G>C NP_001280119.1:p.Gln248His
NM_001293191.2:c.732G>C NP_001280120.1:p.Gln244His
NM_001293192.2:c.423G>C NP_001280121.1:p.Gln141His
NM_001293195.2:c.699G>C NP_001280124.1:p.Gln233His
NM_001293196.2:c.423G>C NP_001280125.1:p.Gln141His
NM_001350650.2:c.354G>C NP_001337579.1:p.Gln118His
NM_001350651.2:c.354G>C NP_001337580.1:p.Gln118His
NM_012222.3:c.774G>C NP_036354.1:p.Gln258His
NR_146882.2:n.927G>C
NR_146883.2:n.776G>C