Revel Score:
ENST00000234420 (MANE Select)
0.367
ENST00000544857
0.367
ENST00000543270
0.367
ENST00000540021
0.367
ENST00000538136
0.367
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001064 (AFR)
Genomes Max Group AF
0.000008 (AFR)
Exomes Max Group AF
7.2e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47801145C>G , CM000664.2:g.47801145C>G | GRCh38 |
| NC_000002.11:g.48028284C>G , CM000664.1:g.48028284C>G | GRCh37 |
| NC_000002.10:g.47881788C>G | NCBI36 |
| NG_007111.1:g.22999C>G , LRG_219:g.22999C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.2865C>G (MSH6) | ENSP00000406248.2:p.Ile955Met | |
| ENST00000420813.6:c.2865C>G (MSH6) | ENSP00000390382.2:p.Ile955Met | |
| ENST00000455383.6:c.2865C>G (MSH6) | ENSP00000397484.2:p.Ile955Met | |
| ENST00000700004.2:c.3162C>G (MSH6) | ENSP00000514752.2:p.Ile1054Met | |
| ENST00000699999.1:n.3246C>G (MSH6) | ||
| ENST00000700000.1:c.1606+1556C>G (MSH6) | ENSP00000514749.1:n.1606+1556C>G | |
| ENST00000700002.1:c.3168C>G (MSH6) | ENSP00000514750.1:p.Ile1056Met | |
| ENST00000700003.1:c.628-2275C>G (MSH6) | ENSP00000514751.1:n.628-2275C>G | |
| ENST00000700004.1:c.2319C>G (MSH6) | ENSP00000514752.1:p.Ile773Met | |
| ENST00000234420.11:c.3162C>G (MSH6) MANE Select | ENSP00000234420.5:p.Ile1054Met | |
| ENST00000540021.6:c.2772C>G (MSH6) | ENSP00000446475.1:p.Ile924Met | |
| ENST00000652107.1:c.2865C>G (MSH6) | ENSP00000498629.1:p.Ile955Met | |
| ENST00000673637.1:c.2865C>G (MSH6) | ENSP00000501310.1:p.Ile955Met | |
| ENST00000234420.9:c.3162C>G (MSH6) | ENSP00000234420.4:p.Ile1054Met | |
| ENST00000405808.5:c.169+7050G>C (FBXO11) | ENSP00000385127.1:n.169+7050G>C | |
| ENST00000434234.5:c.*124+6849G>C (FBXO11) | ENSP00000402692.1:n.*124+6849G>C | |
| ENST00000445503.5:c.*2509C>G (MSH6) | ENSP00000405294.1:n.*2509C>G | |
| ENST00000538136.1:c.2256C>G (MSH6) | ENSP00000438580.1:p.Ile752Met | |
| ENST00000540021.5:c.2772C>G (MSH6) | ENSP00000446475.1:p.Ile924Met | |
| ENST00000614496.4:c.2256C>G (MSH6) | ENSP00000477844.1:p.Ile752Met | |
| ENST00000616033.4:c.3159C>G (MSH6) | ENSP00000480261.1:p.Ile1053Met | |
| ENST00000622629.4:c.66C>G (MSH6) | ENSP00000482078.1:p.Ile22Met | |
| NM_000179.2:c.3162C>G , LRG_219t1:c.3162C>G (MSH6) | NP_000170.1:p.Ile1054Met | |
| NM_001281492.1:c.2772C>G (MSH6) | NP_001268421.1:p.Ile924Met | |
| NM_001281493.1:c.2256C>G (MSH6) | NP_001268422.1:p.Ile752Met | |
| NM_001281494.1:c.2256C>G (MSH6) | NP_001268423.1:p.Ile752Met | |
| XM_005264271.1:c.2865C>G (MSH6) | XP_005264328.1:p.Ile955Met | |
| XM_011532798.1:c.2979C>G (MSH6) | XP_011531100.1:p.Ile993Met | |
| XM_011532799.1:c.2865C>G (MSH6) | XP_011531101.1:p.Ile955Met | |
| XM_011532800.1:c.2865C>G (MSH6) | XP_011531102.1:p.Ile955Met | |
| XM_024452819.1:c.3162C>G (MSH6) | XP_024308587.1:p.Ile1054Met | |
| XM_024452820.1:c.2979C>G (MSH6) | XP_024308588.1:p.Ile993Met | |
| XM_024452821.1:c.2865C>G (MSH6) | XP_024308589.1:p.Ile955Met | |
| XM_024452822.1:c.2256C>G (MSH6) | XP_024308590.1:p.Ile752Met | |
| NM_000179.3:c.3162C>G (MSH6) MANE Select | NP_000170.1:p.Ile1054Met | |
| NM_001281492.2:c.2772C>G (MSH6) | NP_001268421.1:p.Ile924Met | |
| NM_001281493.2:c.2256C>G (MSH6) | NP_001268422.1:p.Ile752Met | |
| NM_001281494.2:c.2256C>G (MSH6) | NP_001268423.1:p.Ile752Met |