Revel Score:
ENST00000528332
0.034
ENST00000372098
0.034
ENST00000372110
0.034
ENST00000372115
0.034
ENST00000450313
0.034
ENST00000525481
0.034
ENST00000412971
0.034
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340247G>C , CM000663.2:g.45340247G>C | GRCh38 |
| NC_000001.10:g.45805919G>C , CM000663.1:g.45805919G>C | GRCh37 |
| NC_000001.9:g.45578506G>C | NCBI36 |
| NG_008189.1:g.5224C>G , LRG_220:g.5224C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.8C>G (MUTYH) | ENSP00000410263.2:p.Pro3Arg | |
| ENST00000529892.6:c.8C>G (MUTYH) | ENSP00000432528.2:p.Pro3Arg | |
| ENST00000710952.2:c.8C>G (MUTYH) MANE Plus Clinical | ENSP00000518552.2:p.Pro3Arg | |
| ENST00000672818.3:c.8C>G (MUTYH) | ENSP00000500891.1:p.Pro3Arg | |
| ENST00000372090.6:c.-6G>C (TOE1) MANE Select | ENSP00000361162.5:n.-6G>C | |
| ENST00000450313.6:c.8C>G (MUTYH) | ENSP00000408176.2:p.Pro3Arg | |
| ENST00000461495.6:c.8C>G (MUTYH) | ENSP00000437166.1:p.Pro3Arg | |
| ENST00000671898.1:c.541-5736C>G | ENSP00000499896.1:n.541-5736C>G | |
| ENST00000672011.1:c.8C>G (MUTYH) | ENSP00000500418.1:p.Pro3Arg | |
| ENST00000672818.2:c.8C>G (MUTYH) | ENSP00000500891.1:p.Pro3Arg | |
| ENST00000372090.5:c.-6G>C (TOE1) | ENSP00000361162.5:n.-6G>C | |
| ENST00000372098.7:c.8C>G (MUTYH) | ENSP00000361170.3:p.Pro3Arg | |
| ENST00000372110.7:c.8C>G (MUTYH) | ENSP00000361182.3:p.Pro3Arg | |
| ENST00000372115.7:c.8C>G (MUTYH) | ENSP00000361187.3:p.Pro3Arg | |
| ENST00000412971.5:c.8C>G (MUTYH) | ENSP00000410263.1:p.Pro3Arg | |
| ENST00000450313.5:c.8C>G (MUTYH) | ENSP00000408176.1:p.Pro3Arg | |
| ENST00000461495.5:c.8C>G (MUTYH) | ENSP00000437166.1:p.Pro3Arg | |
| ENST00000462387.5:n.186C>G (MUTYH) | ||
| ENST00000467940.5:c.8C>G (MUTYH) | ENSP00000436478.1:p.Pro3Arg | |
| ENST00000471337.5:n.73G>C (TOE1) | ||
| ENST00000476789.5:n.186C>G (MUTYH) | ||
| ENST00000477731.5:n.196G>C (TOE1) | ||
| ENST00000481139.5:n.169C>G (MUTYH) | ||
| ENST00000481571.5:c.8C>G (MUTYH) | ENSP00000436597.1:p.Pro3Arg | |
| ENST00000483642.5:n.151C>G (MUTYH) | ||
| ENST00000495703.5:n.27G>C (TOE1) | ||
| ENST00000525160.5:c.8C>G (MUTYH) | ENSP00000431568.1:p.Pro3Arg | |
| ENST00000529984.5:c.-35C>G (MUTYH) | ENSP00000437093.1:n.-35C>G | |
| NM_001048171.1:c.8C>G (MUTYH) | NP_001041636.1:p.Pro3Arg | |
| NM_001128425.1:c.8C>G , LRG_220t1:c.8C>G (MUTYH) | NP_001121897.1:p.Pro3Arg | |
| NM_001293190.1:c.8C>G (MUTYH) | NP_001280119.1:p.Pro3Arg | |
| NM_001293192.1:c.-247C>G (MUTYH) | NP_001280121.1:n.-247C>G | |
| NM_012222.2:c.8C>G (MUTYH) | NP_036354.1:p.Pro3Arg | |
| NM_025077.3:c.-6G>C (TOE1) | NP_079353.3:n.-6G>C | |
| XM_005270412.2:c.-6G>C (TOE1) | XP_005270469.1:n.-6G>C | |
| XM_005270413.3:c.-382G>C (TOE1) | XP_005270470.1:n.-382G>C | |
| XM_011540569.1:c.-290G>C (TOE1) | XP_011538871.1:n.-290G>C | |
| XM_011541503.1:c.8C>G (MUTYH) | XP_011539805.1:p.Pro3Arg | |
| XM_011541505.1:c.-108C>G (MUTYH) | XP_011539807.1:n.-108C>G | |
| XR_246230.2:n.272G>C (TOE1) | ||
| XR_426587.2:n.74G>C (TOE1) | ||
| XR_946532.1:n.74G>C (TOE1) | ||
| XR_946658.1:n.55C>G (MUTYH) | ||
| NM_001350650.1:c.-306C>G (MUTYH) | NP_001337579.1:n.-306C>G | |
| NM_001350651.1:c.-242C>G (MUTYH) | NP_001337580.1:n.-242C>G | |
| NR_146882.1:n.224C>G (MUTYH) | ||
| XM_005270412.4:c.-6G>C (TOE1) | XP_005270469.1:n.-6G>C | |
| XM_005270413.5:c.-382G>C (TOE1) | XP_005270470.1:n.-382G>C | |
| XM_011540569.3:c.-290G>C (TOE1) | XP_011538871.1:n.-290G>C | |
| XM_011541503.2:c.8C>G (MUTYH) | XP_011539805.1:p.Pro3Arg | |
| XM_011541505.2:c.-108C>G (MUTYH) | XP_011539807.1:n.-108C>G | |
| XM_017001331.1:c.-51C>G (MUTYH) | XP_016856820.1:n.-51C>G | |
| XM_017001332.1:c.-31C>G (MUTYH) | XP_016856821.1:n.-31C>G | |
| XM_017001335.1:c.-263C>G (MUTYH) | XP_016856824.1:n.-263C>G | |
| XM_017001336.1:c.-339C>G (MUTYH) | XP_016856825.1:n.-339C>G | |
| XM_024447244.1:c.-348C>G (MUTYH) | XP_024303012.1:n.-348C>G | |
| XM_024447248.1:c.-306C>G (MUTYH) | XP_024303016.1:n.-306C>G | |
| XM_024447249.1:c.-798C>G (MUTYH) | XP_024303017.1:n.-798C>G | |
| XM_024447250.1:c.-821C>G (MUTYH) | XP_024303018.1:n.-821C>G | |
| XM_024452837.1:c.-382G>C (TOE1) | XP_024308605.1:n.-382G>C | |
| XR_001736951.2:n.182G>C (TOE1) | ||
| XR_001737190.1:n.75C>G (MUTYH) | ||
| XR_002956643.1:n.183C>G (MUTYH) | ||
| XR_002956644.1:n.201C>G (MUTYH) | ||
| XR_002959287.1:n.497G>C (TOE1) | ||
| XR_246230.4:n.182G>C (TOE1) | ||
| XR_426587.4:n.74G>C (TOE1) | ||
| XR_946532.3:n.74G>C (TOE1) | ||
| XR_946658.2:n.69C>G (MUTYH) | ||
| NM_025077.4:c.-6G>C (TOE1) MANE Select | NP_079353.3:n.-6G>C | |
| NM_001048171.2:c.-35C>G (MUTYH) | NP_001041636.2:n.-35C>G | |
| NM_001128425.2:c.8C>G (MUTYH) MANE Plus Clinical | NP_001121897.1:p.Pro3Arg | |
| NM_001293190.2:c.8C>G (MUTYH) | NP_001280119.1:p.Pro3Arg | |
| NM_001293192.2:c.-247C>G (MUTYH) | NP_001280121.1:n.-247C>G | |
| NM_001350650.2:c.-306C>G (MUTYH) | NP_001337579.1:n.-306C>G | |
| NM_001350651.2:c.-242C>G (MUTYH) | NP_001337580.1:n.-242C>G | |
| NM_012222.3:c.8C>G (MUTYH) | NP_036354.1:p.Pro3Arg | |
| NR_146882.2:n.194C>G (MUTYH) |