Linked Data
ClinVar Variation Id:
246019
dbSNP Id:
rs774530388
ExAC:
1:45805887 G / C
gnomAD v2:
1-45805887-G-C
gnomAD v4:
1-45340215-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340215G>C , CM000663.2:g.45340215G>C | GRCh38 |
| NC_000001.10:g.45805887G>C , CM000663.1:g.45805887G>C | GRCh37 |
| NC_000001.9:g.45578474G>C | NCBI36 |
| NG_008189.1:g.5256C>G , LRG_220:g.5256C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.36+4C>G (MUTYH) | ENSP00000410263.2:n.36+4C>G | |
| ENST00000529892.6:c.36+4C>G (MUTYH) | ENSP00000432528.2:n.36+4C>G | |
| ENST00000710952.2:c.36+4C>G (MUTYH) MANE Plus Clinical | ENSP00000518552.2:n.36+4C>G | |
| ENST00000672818.3:c.36+4C>G (MUTYH) | ENSP00000500891.1:n.36+4C>G | |
| ENST00000372090.6:c.-38G>C (TOE1) MANE Select | ENSP00000361162.5:n.-38G>C | |
| ENST00000450313.6:c.36+4C>G (MUTYH) | ENSP00000408176.2:n.36+4C>G | |
| ENST00000461495.6:c.36+4C>G (MUTYH) | ENSP00000437166.1:n.36+4C>G | |
| ENST00000671856.1:n.14+4C>G (MUTYH) | ||
| ENST00000671898.1:c.541-5704C>G | ENSP00000499896.1:n.541-5704C>G | |
| ENST00000672011.1:c.36+4C>G (MUTYH) | ENSP00000500418.1:n.36+4C>G | |
| ENST00000672818.2:c.36+4C>G (MUTYH) | ENSP00000500891.1:n.36+4C>G | |
| ENST00000372090.5:c.-38G>C (TOE1) | ENSP00000361162.5:n.-38G>C | |
| ENST00000372098.7:c.36+4C>G (MUTYH) | ENSP00000361170.3:n.36+4C>G | |
| ENST00000372110.7:c.36+4C>G (MUTYH) | ENSP00000361182.3:n.36+4C>G | |
| ENST00000372115.7:c.36+4C>G (MUTYH) | ENSP00000361187.3:n.36+4C>G | |
| ENST00000412971.5:c.36+4C>G (MUTYH) | ENSP00000410263.1:n.36+4C>G | |
| ENST00000450313.5:c.36+4C>G (MUTYH) | ENSP00000408176.1:n.36+4C>G | |
| ENST00000461495.5:c.36+4C>G (MUTYH) | ENSP00000437166.1:n.36+4C>G | |
| ENST00000462387.5:n.214+4C>G (MUTYH) | ||
| ENST00000467940.5:c.40C>G (MUTYH) | ENSP00000436478.1:p.Arg14Gly | |
| ENST00000471337.5:n.41G>C (TOE1) | ||
| ENST00000476789.5:n.214+4C>G (MUTYH) | ||
| ENST00000477731.5:n.164G>C (TOE1) | ||
| ENST00000481139.5:n.197+4C>G (MUTYH) | ||
| ENST00000481571.5:c.36+4C>G (MUTYH) | ENSP00000436597.1:n.36+4C>G | |
| ENST00000483642.5:n.175+8C>G (MUTYH) | ||
| ENST00000525160.5:c.36+4C>G (MUTYH) | ENSP00000431568.1:n.36+4C>G | |
| ENST00000529984.5:c.-7+4C>G (MUTYH) | ENSP00000437093.1:n.-7+4C>G | |
| ENST00000534453.1:n.21C>G (MUTYH) | ||
| NM_001048171.1:c.36+4C>G (MUTYH) | NP_001041636.1:n.36+4C>G | |
| NM_001128425.1:c.36+4C>G , LRG_220t1:c.36+4C>G (MUTYH) | NP_001121897.1:n.36+4C>G | |
| NM_001293190.1:c.36+4C>G (MUTYH) | NP_001280119.1:n.36+4C>G | |
| NM_001293192.1:c.-219+4C>G (MUTYH) | NP_001280121.1:n.-219+4C>G | |
| NM_012222.2:c.36+4C>G (MUTYH) | NP_036354.1:n.36+4C>G | |
| NM_025077.3:c.-38G>C (TOE1) | NP_079353.3:n.-38G>C | |
| XM_005270412.2:c.-38G>C (TOE1) | XP_005270469.1:n.-38G>C | |
| XM_011541503.1:c.36+4C>G (MUTYH) | XP_011539805.1:n.36+4C>G | |
| XM_011541505.1:c.-80+4C>G (MUTYH) | XP_011539807.1:n.-80+4C>G | |
| XR_246230.2:n.240G>C (TOE1) | ||
| XR_426587.2:n.42G>C (TOE1) | ||
| XR_946532.1:n.42G>C (TOE1) | ||
| XR_946658.1:n.83+4C>G (MUTYH) | ||
| NM_001350650.1:c.-278+4C>G (MUTYH) | NP_001337579.1:n.-278+4C>G | |
| NM_001350651.1:c.-214+4C>G (MUTYH) | NP_001337580.1:n.-214+4C>G | |
| NR_146882.1:n.252+4C>G (MUTYH) | ||
| XM_005270412.4:c.-38G>C (TOE1) | XP_005270469.1:n.-38G>C | |
| XM_005270413.5:c.-414G>C (TOE1) | XP_005270470.1:n.-414G>C | |
| XM_011540569.3:c.-322G>C (TOE1) | XP_011538871.1:n.-322G>C | |
| XM_011541503.2:c.36+4C>G (MUTYH) | XP_011539805.1:n.36+4C>G | |
| XM_011541505.2:c.-80+4C>G (MUTYH) | XP_011539807.1:n.-80+4C>G | |
| XM_017001331.1:c.-19C>G (MUTYH) | XP_016856820.1:n.-19C>G | |
| XM_017001332.1:c.-7+8C>G (MUTYH) | XP_016856821.1:n.-7+8C>G | |
| XM_017001335.1:c.-231C>G (MUTYH) | XP_016856824.1:n.-231C>G | |
| XM_017001336.1:c.-311+4C>G (MUTYH) | XP_016856825.1:n.-311+4C>G | |
| XM_024447244.1:c.-320+4C>G (MUTYH) | XP_024303012.1:n.-320+4C>G | |
| XM_024447248.1:c.-278+4C>G (MUTYH) | XP_024303016.1:n.-278+4C>G | |
| XM_024447249.1:c.-774+8C>G (MUTYH) | XP_024303017.1:n.-774+8C>G | |
| XM_024447250.1:c.-789C>G (MUTYH) | XP_024303018.1:n.-789C>G | |
| XM_024452837.1:c.-414G>C (TOE1) | XP_024308605.1:n.-414G>C | |
| XR_001736951.2:n.150G>C (TOE1) | ||
| XR_001737190.1:n.103+4C>G (MUTYH) | ||
| XR_002956643.1:n.211+4C>G (MUTYH) | ||
| XR_002956644.1:n.229+4C>G (MUTYH) | ||
| XR_002959287.1:n.465G>C (TOE1) | ||
| XR_246230.4:n.150G>C (TOE1) | ||
| XR_426587.4:n.42G>C (TOE1) | ||
| XR_946532.3:n.42G>C (TOE1) | ||
| XR_946658.2:n.97+4C>G (MUTYH) | ||
| NM_025077.4:c.-38G>C (TOE1) MANE Select | NP_079353.3:n.-38G>C | |
| NM_001048171.2:c.-7+4C>G (MUTYH) | NP_001041636.2:n.-7+4C>G | |
| NM_001128425.2:c.36+4C>G (MUTYH) MANE Plus Clinical | NP_001121897.1:n.36+4C>G | |
| NM_001293190.2:c.36+4C>G (MUTYH) | NP_001280119.1:n.36+4C>G | |
| NM_001293192.2:c.-219+4C>G (MUTYH) | NP_001280121.1:n.-219+4C>G | |
| NM_001350650.2:c.-278+4C>G (MUTYH) | NP_001337579.1:n.-278+4C>G | |
| NM_001350651.2:c.-214+4C>G (MUTYH) | NP_001337580.1:n.-214+4C>G | |
| NM_012222.3:c.36+4C>G (MUTYH) | NP_036354.1:n.36+4C>G | |
| NR_146882.2:n.222+4C>G (MUTYH) |