Revel Score:
ENST00000234420 (MANE Select)
0.328
ENST00000543270
0.328
ENST00000540021
0.328
ENST00000538136
0.328
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002256 (AMR)
Genomes Max Group AF
0.00005293 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806495C>A , CM000664.2:g.47806495C>A | GRCh38 |
| NC_000002.11:g.48033634C>A , CM000664.1:g.48033634C>A | GRCh37 |
| NC_000002.10:g.47887138C>A | NCBI36 |
| NG_007111.1:g.28349C>A , LRG_219:g.28349C>A | |
| NG_008397.1:g.104181G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3548C>A (MSH6) | ENSP00000406248.2:p.Thr1183Asn | |
| ENST00000420813.6:c.3548C>A (MSH6) | ENSP00000390382.2:p.Thr1183Asn | |
| ENST00000455383.6:c.3548C>A (MSH6) | ENSP00000397484.2:p.Thr1183Asn | |
| ENST00000700004.2:c.3461C>A (MSH6) | ENSP00000514752.2:p.Thr1154Asn | |
| ENST00000699999.1:n.4519C>A (MSH6) | ||
| ENST00000700000.1:c.2279C>A (MSH6) | ENSP00000514749.1:p.Thr760Asn | |
| ENST00000700002.1:c.3851C>A (MSH6) | ENSP00000514750.1:p.Thr1284Asn | |
| ENST00000700003.1:c.1300C>A (MSH6) | ENSP00000514751.1:n.1300C>A | |
| ENST00000700004.1:c.2618C>A (MSH6) | ENSP00000514752.1:p.Thr873Asn | |
| ENST00000700005.1:n.2696C>A (MSH6) | ||
| ENST00000700006.1:n.5003C>A (MSH6) | ||
| ENST00000700007.1:n.2440C>A (MSH6) | ||
| ENST00000700008.1:n.2107C>A (MSH6) | ||
| ENST00000700009.1:n.2509C>A (MSH6) | ||
| ENST00000700010.1:n.1254C>A (MSH6) | ||
| ENST00000700011.1:n.3139C>A (MSH6) | ||
| ENST00000682451.1:n.4253G>T (FBXO11) | ||
| ENST00000684712.1:n.4515G>T (FBXO11) | ||
| ENST00000234420.11:c.3845C>A (MSH6) MANE Select | ENSP00000234420.5:p.Thr1282Asn | |
| ENST00000540021.6:c.3455C>A (MSH6) | ENSP00000446475.1:p.Thr1152Asn | |
| ENST00000652107.1:c.3548C>A (MSH6) | ENSP00000498629.1:p.Thr1183Asn | |
| ENST00000673637.1:c.3548C>A (MSH6) | ENSP00000501310.1:p.Thr1183Asn | |
| ENST00000234420.9:c.3845C>A (MSH6) | ENSP00000234420.4:p.Thr1282Asn | |
| ENST00000405808.5:c.169+1700G>T (FBXO11) | ENSP00000385127.1:n.169+1700G>T | |
| ENST00000434234.5:c.*124+1499G>T (FBXO11) | ENSP00000402692.1:n.*124+1499G>T | |
| ENST00000445503.5:c.*3192C>A (MSH6) | ENSP00000405294.1:n.*3192C>A | |
| ENST00000538136.1:c.2939C>A (MSH6) | ENSP00000438580.1:p.Thr980Asn | |
| ENST00000540021.5:c.3455C>A (MSH6) | ENSP00000446475.1:p.Thr1152Asn | |
| ENST00000614496.4:c.2939C>A (MSH6) | ENSP00000477844.1:p.Thr980Asn | |
| ENST00000622629.4:c.746C>A (MSH6) | ENSP00000482078.1:p.Thr249Asn | |
| NM_000179.2:c.3845C>A , LRG_219t1:c.3845C>A (MSH6) | NP_000170.1:p.Thr1282Asn | |
| NM_001281492.1:c.3455C>A (MSH6) | NP_001268421.1:p.Thr1152Asn | |
| NM_001281493.1:c.2939C>A (MSH6) | NP_001268422.1:p.Thr980Asn | |
| NM_001281494.1:c.2939C>A (MSH6) | NP_001268423.1:p.Thr980Asn | |
| XM_005264271.1:c.3548C>A (MSH6) | XP_005264328.1:p.Thr1183Asn | |
| XM_011532798.1:c.3662C>A (MSH6) | XP_011531100.1:p.Thr1221Asn | |
| XM_011532799.1:c.3548C>A (MSH6) | XP_011531101.1:p.Thr1183Asn | |
| XM_011532800.1:c.3548C>A (MSH6) | XP_011531102.1:p.Thr1183Asn | |
| XM_024452819.1:c.3938C>A (MSH6) | XP_024308587.1:p.Thr1313Asn | |
| XM_024452820.1:c.3755C>A (MSH6) | XP_024308588.1:p.Thr1252Asn | |
| XM_024452821.1:c.3641C>A (MSH6) | XP_024308589.1:p.Thr1214Asn | |
| XM_024452822.1:c.3032C>A (MSH6) | XP_024308590.1:p.Thr1011Asn | |
| NM_000179.3:c.3845C>A (MSH6) MANE Select | NP_000170.1:p.Thr1282Asn | |
| NM_001281492.2:c.3455C>A (MSH6) | NP_001268421.1:p.Thr1152Asn | |
| NM_001281493.2:c.2939C>A (MSH6) | NP_001268422.1:p.Thr980Asn | |
| NM_001281494.2:c.2939C>A (MSH6) | NP_001268423.1:p.Thr980Asn |