Revel Score:
ENST00000234420 (MANE Select)
0.359
ENST00000543270
0.359
ENST00000540021
0.359
ENST00000538136
0.359
gnomAD v2:
gnomAD v4:
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806843T>G , CM000664.2:g.47806843T>G | GRCh38 |
| NC_000002.11:g.48033982T>G , CM000664.1:g.48033982T>G | GRCh37 |
| NC_000002.10:g.47887486T>G | NCBI36 |
| NG_007111.1:g.28697T>G , LRG_219:g.28697T>G | |
| NG_008397.1:g.103833A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3769T>G (MSH6) | ENSP00000406248.2:p.Leu1257Val | |
| ENST00000420813.6:c.3769T>G (MSH6) | ENSP00000390382.2:p.Leu1257Val | |
| ENST00000455383.6:c.3769T>G (MSH6) | ENSP00000397484.2:p.Leu1257Val | |
| ENST00000700004.2:c.3682T>G (MSH6) | ENSP00000514752.2:p.Leu1228Val | |
| ENST00000699999.1:n.4740T>G (MSH6) | ||
| ENST00000700000.1:c.2500T>G (MSH6) | ENSP00000514749.1:p.Leu834Val | |
| ENST00000700002.1:c.4072T>G (MSH6) | ENSP00000514750.1:p.Leu1358Val | |
| ENST00000700003.1:c.1521T>G (MSH6) | ENSP00000514751.1:n.1521T>G | |
| ENST00000700004.1:c.2839T>G (MSH6) | ENSP00000514752.1:p.Leu947Val | |
| ENST00000700005.1:n.3044T>G (MSH6) | ||
| ENST00000700007.1:n.2661T>G (MSH6) | ||
| ENST00000700008.1:n.2328T>G (MSH6) | ||
| ENST00000700009.1:n.2730T>G (MSH6) | ||
| ENST00000700010.1:n.1475T>G (MSH6) | ||
| ENST00000700011.1:n.3360T>G (MSH6) | ||
| ENST00000682451.1:n.3905A>C (FBXO11) | ||
| ENST00000684712.1:n.4167A>C (FBXO11) | ||
| ENST00000234420.11:c.4066T>G (MSH6) MANE Select | ENSP00000234420.5:p.Leu1356Val | |
| ENST00000540021.6:c.3676T>G (MSH6) | ENSP00000446475.1:p.Leu1226Val | |
| ENST00000652107.1:c.3769T>G (MSH6) | ENSP00000498629.1:p.Leu1257Val | |
| ENST00000673637.1:c.3769T>G (MSH6) | ENSP00000501310.1:p.Leu1257Val | |
| ENST00000234420.9:c.4066T>G (MSH6) | ENSP00000234420.4:p.Leu1356Val | |
| ENST00000405808.5:c.169+1352A>C (FBXO11) | ENSP00000385127.1:n.169+1352A>C | |
| ENST00000434234.5:c.*124+1151A>C (FBXO11) | ENSP00000402692.1:n.*124+1151A>C | |
| ENST00000445503.5:c.*3413T>G (MSH6) | ENSP00000405294.1:n.*3413T>G | |
| ENST00000465204.5:n.3067A>C (FBXO11) | ||
| ENST00000538136.1:c.3160T>G (MSH6) | ENSP00000438580.1:p.Leu1054Val | |
| ENST00000540021.5:c.3676T>G (MSH6) | ENSP00000446475.1:p.Leu1226Val | |
| ENST00000614496.4:c.3160T>G (MSH6) | ENSP00000477844.1:p.Leu1054Val | |
| ENST00000622629.4:c.967T>G (MSH6) | ENSP00000482078.1:p.Leu323Val | |
| NM_000179.2:c.4066T>G , LRG_219t1:c.4066T>G (MSH6) | NP_000170.1:p.Leu1356Val | |
| NM_001281492.1:c.3676T>G (MSH6) | NP_001268421.1:p.Leu1226Val | |
| NM_001281493.1:c.3160T>G (MSH6) | NP_001268422.1:p.Leu1054Val | |
| NM_001281494.1:c.3160T>G (MSH6) | NP_001268423.1:p.Leu1054Val | |
| XM_005264271.1:c.3769T>G (MSH6) | XP_005264328.1:p.Leu1257Val | |
| XM_011532798.1:c.3883T>G (MSH6) | XP_011531100.1:p.Leu1295Val | |
| XM_011532799.1:c.3769T>G (MSH6) | XP_011531101.1:p.Leu1257Val | |
| XM_011532800.1:c.3769T>G (MSH6) | XP_011531102.1:p.Leu1257Val | |
| XM_024452819.1:c.4159T>G (MSH6) | XP_024308587.1:p.Leu1387Val | |
| XM_024452820.1:c.3976T>G (MSH6) | XP_024308588.1:p.Leu1326Val | |
| XM_024452821.1:c.3862T>G (MSH6) | XP_024308589.1:p.Leu1288Val | |
| XM_024452822.1:c.3253T>G (MSH6) | XP_024308590.1:p.Leu1085Val | |
| NM_000179.3:c.4066T>G (MSH6) MANE Select | NP_000170.1:p.Leu1356Val | |
| NM_001281492.2:c.3676T>G (MSH6) | NP_001268421.1:p.Leu1226Val | |
| NM_001281493.2:c.3160T>G (MSH6) | NP_001268422.1:p.Leu1054Val | |
| NM_001281494.2:c.3160T>G (MSH6) | NP_001268423.1:p.Leu1054Val |