Linked Data
ClinVar Variation Id:
1736069
ClinVar RCV Id:
RCV002357491
dbSNP Id:
rs63751064
COSMIC:
COSM13341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47806557G>A , CM000664.2:g.47806557G>A | GRCh38 |
| NC_000002.11:g.48033696G>A , CM000664.1:g.48033696G>A | GRCh37 |
| NC_000002.10:g.47887200G>A | NCBI36 |
| NG_007111.1:g.28411G>A , LRG_219:g.28411G>A | |
| NG_008397.1:g.104119C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.3610G>A (MSH6) | ENSP00000406248.2:p.Ala1204Thr | |
| ENST00000420813.6:c.3610G>A (MSH6) | ENSP00000390382.2:p.Ala1204Thr | |
| ENST00000455383.6:c.3610G>A (MSH6) | ENSP00000397484.2:p.Ala1204Thr | |
| ENST00000700004.2:c.3523G>A (MSH6) | ENSP00000514752.2:p.Ala1175Thr | |
| ENST00000699999.1:n.4581G>A (MSH6) | ||
| ENST00000700000.1:c.2341G>A (MSH6) | ENSP00000514749.1:p.Ala781Thr | |
| ENST00000700002.1:c.3913G>A (MSH6) | ENSP00000514750.1:p.Ala1305Thr | |
| ENST00000700003.1:c.1362G>A (MSH6) | ENSP00000514751.1:n.1362G>A | |
| ENST00000700004.1:c.2680G>A (MSH6) | ENSP00000514752.1:p.Ala894Thr | |
| ENST00000700005.1:n.2758G>A (MSH6) | ||
| ENST00000700006.1:n.5065G>A (MSH6) | ||
| ENST00000700007.1:n.2502G>A (MSH6) | ||
| ENST00000700008.1:n.2169G>A (MSH6) | ||
| ENST00000700009.1:n.2571G>A (MSH6) | ||
| ENST00000700010.1:n.1316G>A (MSH6) | ||
| ENST00000700011.1:n.3201G>A (MSH6) | ||
| ENST00000682451.1:n.4191C>T (FBXO11) | ||
| ENST00000684712.1:n.4453C>T (FBXO11) | ||
| ENST00000234420.11:c.3907G>A (MSH6) MANE Select | ENSP00000234420.5:p.Ala1303Thr | |
| ENST00000540021.6:c.3517G>A (MSH6) | ENSP00000446475.1:p.Ala1173Thr | |
| ENST00000652107.1:c.3610G>A (MSH6) | ENSP00000498629.1:p.Ala1204Thr | |
| ENST00000673637.1:c.3610G>A (MSH6) | ENSP00000501310.1:p.Ala1204Thr | |
| ENST00000234420.9:c.3907G>A (MSH6) | ENSP00000234420.4:p.Ala1303Thr | |
| ENST00000405808.5:c.169+1638C>T (FBXO11) | ENSP00000385127.1:n.169+1638C>T | |
| ENST00000434234.5:c.*124+1437C>T (FBXO11) | ENSP00000402692.1:n.*124+1437C>T | |
| ENST00000445503.5:c.*3254G>A (MSH6) | ENSP00000405294.1:n.*3254G>A | |
| ENST00000538136.1:c.3001G>A (MSH6) | ENSP00000438580.1:p.Ala1001Thr | |
| ENST00000540021.5:c.3517G>A (MSH6) | ENSP00000446475.1:p.Ala1173Thr | |
| ENST00000614496.4:c.3001G>A (MSH6) | ENSP00000477844.1:p.Ala1001Thr | |
| ENST00000622629.4:c.808G>A (MSH6) | ENSP00000482078.1:p.Ala270Thr | |
| NM_000179.2:c.3907G>A , LRG_219t1:c.3907G>A (MSH6) | NP_000170.1:p.Ala1303Thr | |
| NM_001281492.1:c.3517G>A (MSH6) | NP_001268421.1:p.Ala1173Thr | |
| NM_001281493.1:c.3001G>A (MSH6) | NP_001268422.1:p.Ala1001Thr | |
| NM_001281494.1:c.3001G>A (MSH6) | NP_001268423.1:p.Ala1001Thr | |
| XM_005264271.1:c.3610G>A (MSH6) | XP_005264328.1:p.Ala1204Thr | |
| XM_011532798.1:c.3724G>A (MSH6) | XP_011531100.1:p.Ala1242Thr | |
| XM_011532799.1:c.3610G>A (MSH6) | XP_011531101.1:p.Ala1204Thr | |
| XM_011532800.1:c.3610G>A (MSH6) | XP_011531102.1:p.Ala1204Thr | |
| XM_024452819.1:c.4000G>A (MSH6) | XP_024308587.1:p.Ala1334Thr | |
| XM_024452820.1:c.3817G>A (MSH6) | XP_024308588.1:p.Ala1273Thr | |
| XM_024452821.1:c.3703G>A (MSH6) | XP_024308589.1:p.Ala1235Thr | |
| XM_024452822.1:c.3094G>A (MSH6) | XP_024308590.1:p.Ala1032Thr | |
| NM_000179.3:c.3907G>A (MSH6) MANE Select | NP_000170.1:p.Ala1303Thr | |
| NM_001281492.2:c.3517G>A (MSH6) | NP_001268421.1:p.Ala1173Thr | |
| NM_001281493.2:c.3001G>A (MSH6) | NP_001268422.1:p.Ala1001Thr | |
| NM_001281494.2:c.3001G>A (MSH6) | NP_001268423.1:p.Ala1001Thr |