Linked Data
ClinVar Variation Id:
336442
dbSNP Id:
rs587781657
gnomAD v2:
2-48026389-C-A
gnomAD v3:
2-47799250-C-A
gnomAD v4:
2-47799250-C-A
COSMIC:
COSM477462
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47799250C>A , CM000664.2:g.47799250C>A | GRCh38 |
| NC_000002.11:g.48026389C>A , CM000664.1:g.48026389C>A | GRCh37 |
| NC_000002.10:g.47879893C>A | NCBI36 |
| NG_007111.1:g.21104C>A , LRG_219:g.21104C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411819.2:c.970C>A (MSH6) | ENSP00000406248.2:p.Leu324Ile | |
| ENST00000420813.6:c.970C>A (MSH6) | ENSP00000390382.2:p.Leu324Ile | |
| ENST00000455383.6:c.970C>A (MSH6) | ENSP00000397484.2:p.Leu324Ile | |
| ENST00000700004.2:c.1267C>A (MSH6) | ENSP00000514752.2:p.Leu423Ile | |
| ENST00000699999.1:n.1351C>A (MSH6) | ||
| ENST00000700000.1:c.1267C>A (MSH6) | ENSP00000514749.1:p.Leu423Ile | |
| ENST00000700002.1:c.1273C>A (MSH6) | ENSP00000514750.1:p.Leu425Ile | |
| ENST00000700003.1:c.627+3187C>A (MSH6) | ENSP00000514751.1:n.627+3187C>A | |
| ENST00000700004.1:c.424C>A (MSH6) | ENSP00000514752.1:p.Leu142Ile | |
| ENST00000234420.11:c.1267C>A (MSH6) MANE Select | ENSP00000234420.5:p.Leu423Ile | |
| ENST00000540021.6:c.877C>A (MSH6) | ENSP00000446475.1:p.Leu293Ile | |
| ENST00000652107.1:c.970C>A (MSH6) | ENSP00000498629.1:p.Leu324Ile | |
| ENST00000673637.1:c.970C>A (MSH6) | ENSP00000501310.1:p.Leu324Ile | |
| ENST00000234420.9:c.1267C>A (MSH6) | ENSP00000234420.4:p.Leu423Ile | |
| ENST00000405808.5:c.169+8945G>T (FBXO11) | ENSP00000385127.1:n.169+8945G>T | |
| ENST00000434234.5:c.*124+8744G>T (FBXO11) | ENSP00000402692.1:n.*124+8744G>T | |
| ENST00000445503.5:c.*614C>A (MSH6) | ENSP00000405294.1:n.*614C>A | |
| ENST00000538136.1:c.361C>A (MSH6) | ENSP00000438580.1:p.Leu121Ile | |
| ENST00000540021.5:c.877C>A (MSH6) | ENSP00000446475.1:p.Leu293Ile | |
| ENST00000614496.4:c.361C>A (MSH6) | ENSP00000477844.1:p.Leu121Ile | |
| ENST00000616033.4:c.1264C>A (MSH6) | ENSP00000480261.1:p.Leu422Ile | |
| ENST00000622629.4:c.-1830C>A (MSH6) | ENSP00000482078.1:n.-1830C>A | |
| NM_000179.2:c.1267C>A , LRG_219t1:c.1267C>A (MSH6) | NP_000170.1:p.Leu423Ile | |
| NM_001281492.1:c.877C>A (MSH6) | NP_001268421.1:p.Leu293Ile | |
| NM_001281493.1:c.361C>A (MSH6) | NP_001268422.1:p.Leu121Ile | |
| NM_001281494.1:c.361C>A (MSH6) | NP_001268423.1:p.Leu121Ile | |
| XM_005264271.1:c.970C>A (MSH6) | XP_005264328.1:p.Leu324Ile | |
| XM_011532798.1:c.1084C>A (MSH6) | XP_011531100.1:p.Leu362Ile | |
| XM_011532799.1:c.970C>A (MSH6) | XP_011531101.1:p.Leu324Ile | |
| XM_011532800.1:c.970C>A (MSH6) | XP_011531102.1:p.Leu324Ile | |
| XM_024452819.1:c.1267C>A (MSH6) | XP_024308587.1:p.Leu423Ile | |
| XM_024452820.1:c.1084C>A (MSH6) | XP_024308588.1:p.Leu362Ile | |
| XM_024452821.1:c.970C>A (MSH6) | XP_024308589.1:p.Leu324Ile | |
| XM_024452822.1:c.361C>A (MSH6) | XP_024308590.1:p.Leu121Ile | |
| NM_000179.3:c.1267C>A (MSH6) MANE Select | NP_000170.1:p.Leu423Ile | |
| NM_001281492.2:c.877C>A (MSH6) | NP_001268421.1:p.Leu293Ile | |
| NM_001281493.2:c.361C>A (MSH6) | NP_001268422.1:p.Leu121Ile | |
| NM_001281494.2:c.361C>A (MSH6) | NP_001268423.1:p.Leu121Ile |