Linked Data
ClinVar Variation Id:
89422
ClinVar RCV Id:
RCV000166108
RCV000679239
RCV001302789
RCV003230394
RCV003450974
RCV003460687
RCV003997093
dbSNP Id:
rs63751328
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47805638G>A , CM000664.2:g.47805638G>A | GRCh38 |
| NC_000002.11:g.48032777G>A , CM000664.1:g.48032777G>A | GRCh37 |
| NC_000002.10:g.47886281G>A | NCBI36 |
| NG_007111.1:g.27492G>A , LRG_219:g.27492G>A | |
| NG_008397.1:g.105038C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3280G>A (MSH6) | ENSP00000406248.2:p.Glu1094Lys | |
| ENST00000420813.6:c.3280G>A (MSH6) | ENSP00000390382.2:p.Glu1094Lys | |
| ENST00000455383.6:c.3280G>A (MSH6) | ENSP00000397484.2:p.Glu1094Lys | |
| ENST00000700004.2:c.3193G>A (MSH6) | ENSP00000514752.2:p.Glu1065Lys | |
| ENST00000699999.1:n.4251G>A (MSH6) | ||
| ENST00000700000.1:c.2011G>A (MSH6) | ENSP00000514749.1:p.Glu671Lys | |
| ENST00000700002.1:c.3583G>A (MSH6) | ENSP00000514750.1:p.Glu1195Lys | |
| ENST00000700003.1:c.1032G>A (MSH6) | ENSP00000514751.1:n.1032G>A | |
| ENST00000700004.1:c.2350G>A (MSH6) | ENSP00000514752.1:p.Glu784Lys | |
| ENST00000700005.1:n.2428G>A (MSH6) | ||
| ENST00000700006.1:n.4239G>A (MSH6) | ||
| ENST00000700007.1:n.2172G>A (MSH6) | ||
| ENST00000700008.1:n.1746G>A (MSH6) | ||
| ENST00000700009.1:n.1745G>A (MSH6) | ||
| ENST00000700010.1:n.986G>A (MSH6) | ||
| ENST00000700011.1:n.2871G>A (MSH6) | ||
| ENST00000234420.11:c.3577G>A (MSH6) MANE Select | ENSP00000234420.5:p.Glu1193Lys | |
| ENST00000540021.6:c.3187G>A (MSH6) | ENSP00000446475.1:p.Glu1063Lys | |
| ENST00000652107.1:c.3280G>A (MSH6) | ENSP00000498629.1:p.Glu1094Lys | |
| ENST00000673637.1:c.3280G>A (MSH6) | ENSP00000501310.1:p.Glu1094Lys | |
| ENST00000234420.9:c.3577G>A (MSH6) | ENSP00000234420.4:p.Glu1193Lys | |
| ENST00000405808.5:c.169+2557C>T (FBXO11) | ENSP00000385127.1:n.169+2557C>T | |
| ENST00000434234.5:c.*124+2356C>T (FBXO11) | ENSP00000402692.1:n.*124+2356C>T | |
| ENST00000445503.5:c.*2924G>A (MSH6) | ENSP00000405294.1:n.*2924G>A | |
| ENST00000538136.1:c.2671G>A (MSH6) | ENSP00000438580.1:p.Glu891Lys | |
| ENST00000540021.5:c.3187G>A (MSH6) | ENSP00000446475.1:p.Glu1063Lys | |
| ENST00000614496.4:c.2671G>A (MSH6) | ENSP00000477844.1:p.Glu891Lys | |
| ENST00000622629.4:c.481G>A (MSH6) | ENSP00000482078.1:p.Glu161Lys | |
| NM_000179.2:c.3577G>A , LRG_219t1:c.3577G>A (MSH6) | NP_000170.1:p.Glu1193Lys | |
| NM_001281492.1:c.3187G>A (MSH6) | NP_001268421.1:p.Glu1063Lys | |
| NM_001281493.1:c.2671G>A (MSH6) | NP_001268422.1:p.Glu891Lys | |
| NM_001281494.1:c.2671G>A (MSH6) | NP_001268423.1:p.Glu891Lys | |
| XM_005264271.1:c.3280G>A (MSH6) | XP_005264328.1:p.Glu1094Lys | |
| XM_011532798.1:c.3394G>A (MSH6) | XP_011531100.1:p.Glu1132Lys | |
| XM_011532799.1:c.3280G>A (MSH6) | XP_011531101.1:p.Glu1094Lys | |
| XM_011532800.1:c.3280G>A (MSH6) | XP_011531102.1:p.Glu1094Lys | |
| XM_024452819.1:c.3577G>A (MSH6) | XP_024308587.1:p.Glu1193Lys | |
| XM_024452820.1:c.3394G>A (MSH6) | XP_024308588.1:p.Glu1132Lys | |
| XM_024452821.1:c.3280G>A (MSH6) | XP_024308589.1:p.Glu1094Lys | |
| XM_024452822.1:c.2671G>A (MSH6) | XP_024308590.1:p.Glu891Lys | |
| NM_000179.3:c.3577G>A (MSH6) MANE Select | NP_000170.1:p.Glu1193Lys | |
| NM_001281492.2:c.3187G>A (MSH6) | NP_001268421.1:p.Glu1063Lys | |
| NM_001281493.2:c.2671G>A (MSH6) | NP_001268422.1:p.Glu891Lys | |
| NM_001281494.2:c.2671G>A (MSH6) | NP_001268423.1:p.Glu891Lys |