Linked Data
ClinVar Variation Id:
485902
dbSNP Id:
rs1553136984
gnomAD v3:
1-45340218-C-T
gnomAD v4:
1-45340218-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340218C>T , CM000663.2:g.45340218C>T | GRCh38 |
| NC_000001.10:g.45805890C>T , CM000663.1:g.45805890C>T | GRCh37 |
| NC_000001.9:g.45578477C>T | NCBI36 |
| NG_008189.1:g.5253G>A , LRG_220:g.5253G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.36+1G>A (MUTYH) | ENSP00000410263.2:n.36+1G>A | |
| ENST00000529892.6:c.36+1G>A (MUTYH) | ENSP00000432528.2:n.36+1G>A | |
| ENST00000710952.2:c.36+1G>A (MUTYH) MANE Plus Clinical | ENSP00000518552.2:n.36+1G>A | |
| ENST00000672818.3:c.36+1G>A (MUTYH) | ENSP00000500891.1:n.36+1G>A | |
| ENST00000372090.6:c.-35C>T (TOE1) MANE Select | ENSP00000361162.5:n.-35C>T | |
| ENST00000450313.6:c.36+1G>A (MUTYH) | ENSP00000408176.2:n.36+1G>A | |
| ENST00000461495.6:c.36+1G>A (MUTYH) | ENSP00000437166.1:n.36+1G>A | |
| ENST00000671856.1:n.14+1G>A (MUTYH) | ||
| ENST00000671898.1:c.541-5707G>A | ENSP00000499896.1:n.541-5707G>A | |
| ENST00000672011.1:c.36+1G>A (MUTYH) | ENSP00000500418.1:n.36+1G>A | |
| ENST00000672818.2:c.36+1G>A (MUTYH) | ENSP00000500891.1:n.36+1G>A | |
| ENST00000372090.5:c.-35C>T (TOE1) | ENSP00000361162.5:n.-35C>T | |
| ENST00000372098.7:c.36+1G>A (MUTYH) | ENSP00000361170.3:n.36+1G>A | |
| ENST00000372110.7:c.36+1G>A (MUTYH) | ENSP00000361182.3:n.36+1G>A | |
| ENST00000372115.7:c.36+1G>A (MUTYH) | ENSP00000361187.3:n.36+1G>A | |
| ENST00000412971.5:c.36+1G>A (MUTYH) | ENSP00000410263.1:n.36+1G>A | |
| ENST00000450313.5:c.36+1G>A (MUTYH) | ENSP00000408176.1:n.36+1G>A | |
| ENST00000461495.5:c.36+1G>A (MUTYH) | ENSP00000437166.1:n.36+1G>A | |
| ENST00000462387.5:n.214+1G>A (MUTYH) | ||
| ENST00000467940.5:c.37G>A (MUTYH) | ENSP00000436478.1:p.Val13Ile | |
| ENST00000471337.5:n.44C>T (TOE1) | ||
| ENST00000476789.5:n.214+1G>A (MUTYH) | ||
| ENST00000477731.5:n.167C>T (TOE1) | ||
| ENST00000481139.5:n.197+1G>A (MUTYH) | ||
| ENST00000481571.5:c.36+1G>A (MUTYH) | ENSP00000436597.1:n.36+1G>A | |
| ENST00000483642.5:n.175+5G>A (MUTYH) | ||
| ENST00000525160.5:c.36+1G>A (MUTYH) | ENSP00000431568.1:n.36+1G>A | |
| ENST00000529984.5:c.-7+1G>A (MUTYH) | ENSP00000437093.1:n.-7+1G>A | |
| ENST00000534453.1:n.18G>A (MUTYH) | ||
| NM_001048171.1:c.36+1G>A (MUTYH) | NP_001041636.1:n.36+1G>A | |
| NM_001128425.1:c.36+1G>A , LRG_220t1:c.36+1G>A (MUTYH) | NP_001121897.1:n.36+1G>A | |
| NM_001293190.1:c.36+1G>A (MUTYH) | NP_001280119.1:n.36+1G>A | |
| NM_001293192.1:c.-219+1G>A (MUTYH) | NP_001280121.1:n.-219+1G>A | |
| NM_012222.2:c.36+1G>A (MUTYH) | NP_036354.1:n.36+1G>A | |
| NM_025077.3:c.-35C>T (TOE1) | NP_079353.3:n.-35C>T | |
| XM_005270412.2:c.-35C>T (TOE1) | XP_005270469.1:n.-35C>T | |
| XM_011540569.1:c.-319C>T (TOE1) | XP_011538871.1:n.-319C>T | |
| XM_011541503.1:c.36+1G>A (MUTYH) | XP_011539805.1:n.36+1G>A | |
| XM_011541505.1:c.-80+1G>A (MUTYH) | XP_011539807.1:n.-80+1G>A | |
| XR_246230.2:n.243C>T (TOE1) | ||
| XR_426587.2:n.45C>T (TOE1) | ||
| XR_946532.1:n.45C>T (TOE1) | ||
| XR_946658.1:n.83+1G>A (MUTYH) | ||
| NM_001350650.1:c.-278+1G>A (MUTYH) | NP_001337579.1:n.-278+1G>A | |
| NM_001350651.1:c.-214+1G>A (MUTYH) | NP_001337580.1:n.-214+1G>A | |
| NR_146882.1:n.252+1G>A (MUTYH) | ||
| XM_005270412.4:c.-35C>T (TOE1) | XP_005270469.1:n.-35C>T | |
| XM_005270413.5:c.-411C>T (TOE1) | XP_005270470.1:n.-411C>T | |
| XM_011540569.3:c.-319C>T (TOE1) | XP_011538871.1:n.-319C>T | |
| XM_011541503.2:c.36+1G>A (MUTYH) | XP_011539805.1:n.36+1G>A | |
| XM_011541505.2:c.-80+1G>A (MUTYH) | XP_011539807.1:n.-80+1G>A | |
| XM_017001331.1:c.-22G>A (MUTYH) | XP_016856820.1:n.-22G>A | |
| XM_017001332.1:c.-7+5G>A (MUTYH) | XP_016856821.1:n.-7+5G>A | |
| XM_017001335.1:c.-234G>A (MUTYH) | XP_016856824.1:n.-234G>A | |
| XM_017001336.1:c.-311+1G>A (MUTYH) | XP_016856825.1:n.-311+1G>A | |
| XM_024447244.1:c.-320+1G>A (MUTYH) | XP_024303012.1:n.-320+1G>A | |
| XM_024447248.1:c.-278+1G>A (MUTYH) | XP_024303016.1:n.-278+1G>A | |
| XM_024447249.1:c.-774+5G>A (MUTYH) | XP_024303017.1:n.-774+5G>A | |
| XM_024447250.1:c.-792G>A (MUTYH) | XP_024303018.1:n.-792G>A | |
| XM_024452837.1:c.-411C>T (TOE1) | XP_024308605.1:n.-411C>T | |
| XR_001736951.2:n.153C>T (TOE1) | ||
| XR_001737190.1:n.103+1G>A (MUTYH) | ||
| XR_002956643.1:n.211+1G>A (MUTYH) | ||
| XR_002956644.1:n.229+1G>A (MUTYH) | ||
| XR_002959287.1:n.468C>T (TOE1) | ||
| XR_246230.4:n.153C>T (TOE1) | ||
| XR_426587.4:n.45C>T (TOE1) | ||
| XR_946532.3:n.45C>T (TOE1) | ||
| XR_946658.2:n.97+1G>A (MUTYH) | ||
| NM_025077.4:c.-35C>T (TOE1) MANE Select | NP_079353.3:n.-35C>T | |
| NM_001048171.2:c.-7+1G>A (MUTYH) | NP_001041636.2:n.-7+1G>A | |
| NM_001128425.2:c.36+1G>A (MUTYH) MANE Plus Clinical | NP_001121897.1:n.36+1G>A | |
| NM_001293190.2:c.36+1G>A (MUTYH) | NP_001280119.1:n.36+1G>A | |
| NM_001293192.2:c.-219+1G>A (MUTYH) | NP_001280121.1:n.-219+1G>A | |
| NM_001350650.2:c.-278+1G>A (MUTYH) | NP_001337579.1:n.-278+1G>A | |
| NM_001350651.2:c.-214+1G>A (MUTYH) | NP_001337580.1:n.-214+1G>A | |
| NM_012222.3:c.36+1G>A (MUTYH) | NP_036354.1:n.36+1G>A | |
| NR_146882.2:n.222+1G>A (MUTYH) |