Linked Data
ClinVar Variation Id:
428279
dbSNP Id:
rs3219466
gnomAD v2:
1-45806053-G-A
gnomAD v3:
1-45340381-G-A
gnomAD v4:
1-45340381-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45340381G>A , CM000663.2:g.45340381G>A | GRCh38 |
| NC_000001.10:g.45806053G>A , CM000663.1:g.45806053G>A | GRCh37 |
| NC_000001.9:g.45578640G>A | NCBI36 |
| NG_008189.1:g.5090C>T , LRG_220:g.5090C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000412971.6:c.-127C>T (MUTYH) | ENSP00000410263.2:n.-127C>T | |
| ENST00000529892.6:c.-127C>T (MUTYH) | ENSP00000432528.2:n.-127C>T | |
| ENST00000710952.2:c.-127C>T (MUTYH) MANE Plus Clinical | ENSP00000518552.2:n.-127C>T | |
| ENST00000672818.3:c.-127C>T (MUTYH) | ENSP00000500891.1:n.-127C>T | |
| ENST00000372090.6:c.52+77G>A (TOE1) MANE Select | ENSP00000361162.5:n.52+77G>A | |
| ENST00000450313.6:c.-127C>T (MUTYH) | ENSP00000408176.2:n.-127C>T | |
| ENST00000461495.6:c.-127C>T (MUTYH) | ENSP00000437166.1:n.-127C>T | |
| ENST00000671898.1:c.541-5870C>T | ENSP00000499896.1:n.541-5870C>T | |
| ENST00000672011.1:c.-127C>T (MUTYH) | ENSP00000500418.1:n.-127C>T | |
| ENST00000672818.2:c.-127C>T (MUTYH) | ENSP00000500891.1:n.-127C>T | |
| ENST00000372090.5:c.52+77G>A (TOE1) | ENSP00000361162.5:n.52+77G>A | |
| ENST00000372098.7:c.-127C>T (MUTYH) | ENSP00000361170.3:n.-127C>T | |
| ENST00000372110.7:c.-127C>T (MUTYH) | ENSP00000361182.3:n.-127C>T | |
| ENST00000372115.7:c.-127C>T (MUTYH) | ENSP00000361187.3:n.-127C>T | |
| ENST00000412971.5:c.-127C>T (MUTYH) | ENSP00000410263.1:n.-127C>T | |
| ENST00000450313.5:c.-127C>T (MUTYH) | ENSP00000408176.1:n.-127C>T | |
| ENST00000461495.5:c.-127C>T (MUTYH) | ENSP00000437166.1:n.-127C>T | |
| ENST00000462387.5:n.52C>T (MUTYH) | ||
| ENST00000467940.5:c.-127C>T (MUTYH) | ENSP00000436478.1:n.-127C>T | |
| ENST00000471337.5:n.130+77G>A (TOE1) | ||
| ENST00000476789.5:n.52C>T (MUTYH) | ||
| ENST00000477731.5:n.271+59G>A (TOE1) | ||
| ENST00000481139.5:n.35C>T (MUTYH) | ||
| ENST00000481571.5:c.-127C>T (MUTYH) | ENSP00000436597.1:n.-127C>T | |
| ENST00000483642.5:n.17C>T (MUTYH) | ||
| ENST00000495703.5:n.161G>A (TOE1) | ||
| ENST00000525160.5:c.-127C>T (MUTYH) | ENSP00000431568.1:n.-127C>T | |
| ENST00000529984.5:c.-169C>T (MUTYH) | ENSP00000437093.1:n.-169C>T | |
| NM_001048171.1:c.-127C>T (MUTYH) | NP_001041636.1:n.-127C>T | |
| NM_001128425.1:c.-127C>T , LRG_220t1:c.-127C>T (MUTYH) | NP_001121897.1:n.-127C>T | |
| NM_001293190.1:c.-127C>T (MUTYH) | NP_001280119.1:n.-127C>T | |
| NM_001293192.1:c.-381C>T (MUTYH) | NP_001280121.1:n.-381C>T | |
| NM_012222.2:c.-127C>T (MUTYH) | NP_036354.1:n.-127C>T | |
| NM_025077.3:c.52+77G>A (TOE1) | NP_079353.3:n.52+77G>A | |
| XM_005270412.2:c.70+59G>A (TOE1) | XP_005270469.1:n.70+59G>A | |
| XM_005270413.3:c.-248G>A (TOE1) | XP_005270470.1:n.-248G>A | |
| XM_011540569.1:c.-233+77G>A (TOE1) | XP_011538871.1:n.-233+77G>A | |
| XR_246230.2:n.329+77G>A (TOE1) | ||
| XR_426587.2:n.149+59G>A (TOE1) | ||
| XR_946532.1:n.149+59G>A (TOE1) | ||
| NM_001350650.1:c.-440C>T (MUTYH) | NP_001337579.1:n.-440C>T | |
| NM_001350651.1:c.-376C>T (MUTYH) | NP_001337580.1:n.-376C>T | |
| NR_146882.1:n.90C>T (MUTYH) | ||
| XM_005270412.4:c.70+59G>A (TOE1) | XP_005270469.1:n.70+59G>A | |
| XM_005270413.5:c.-248G>A (TOE1) | XP_005270470.1:n.-248G>A | |
| XM_011540569.3:c.-233+77G>A (TOE1) | XP_011538871.1:n.-233+77G>A | |
| XM_024452837.1:c.-248G>A (TOE1) | XP_024308605.1:n.-248G>A | |
| XR_001736951.2:n.239+77G>A (TOE1) | ||
| XR_002956643.1:n.49C>T (MUTYH) | ||
| XR_002956644.1:n.67C>T (MUTYH) | ||
| XR_002959287.1:n.554+77G>A (TOE1) | ||
| XR_246230.4:n.239+77G>A (TOE1) | ||
| XR_426587.4:n.149+59G>A (TOE1) | ||
| XR_946532.3:n.149+59G>A (TOE1) | ||
| NM_025077.4:c.52+77G>A (TOE1) MANE Select | NP_079353.3:n.52+77G>A | |
| NM_001048171.2:c.-169C>T (MUTYH) | NP_001041636.2:n.-169C>T | |
| NM_001128425.2:c.-127C>T (MUTYH) MANE Plus Clinical | NP_001121897.1:n.-127C>T | |
| NM_001293190.2:c.-127C>T (MUTYH) | NP_001280119.1:n.-127C>T | |
| NM_001293192.2:c.-381C>T (MUTYH) | NP_001280121.1:n.-381C>T | |
| NM_001350650.2:c.-440C>T (MUTYH) | NP_001337579.1:n.-440C>T | |
| NM_001350651.2:c.-376C>T (MUTYH) | NP_001337580.1:n.-376C>T | |
| NM_012222.3:c.-127C>T (MUTYH) | NP_036354.1:n.-127C>T | |
| NR_146882.2:n.60C>T (MUTYH) |