Linked Data
ClinVar Variation Id:
214315
dbSNP Id:
rs143236486
ExAC:
12:32890851 C / A
gnomAD v2:
12-32890851-C-A
gnomAD v3:
12-32737917-C-A
gnomAD v4:
12-32737917-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32737917C>A , CM000674.2:g.32737917C>A | GRCh38 |
| NC_000012.11:g.32890851C>A , CM000674.1:g.32890851C>A | GRCh37 |
| NC_000012.10:g.32782118C>A | NCBI36 |
| NG_012219.1:g.63715C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.*962+756C>A (DNM1L) | ENSP00000390090.2:n.*962+756C>A | |
| ENST00000546757.6:c.*1283-347C>A (DNM1L) | ENSP00000448105.2:n.*1283-347C>A | |
| ENST00000547078.6:c.*246C>A (DNM1L) | ENSP00000448802.2:n.*246C>A | |
| ENST00000547719.2:n.3282C>A (DNM1L) | ||
| ENST00000547932.6:c.*1015C>A (DNM1L) | ENSP00000515272.1:n.*1015C>A | |
| ENST00000548671.6:c.*1196C>A (DNM1L) | ENSP00000515271.1:n.*1196C>A | |
| ENST00000548750.6:c.1562C>A (DNM1L) | ENSP00000447788.2:p.Ala521Asp | |
| ENST00000549926.6:c.1202C>A (DNM1L) | ENSP00000515263.1:p.Ala401Asp | |
| ENST00000550011.6:c.*1659+756C>A (DNM1L) | ENSP00000515261.1:n.*1659+756C>A | |
| ENST00000550093.6:n.1736C>A (DNM1L) | ||
| ENST00000551076.6:c.*1266C>A (DNM1L) | ENSP00000515275.1:n.*1266C>A | |
| ENST00000551476.6:c.1598C>A (DNM1L) | ENSP00000447845.2:p.Ala533Asp | |
| ENST00000551643.6:c.*1480C>A (DNM1L) | ENSP00000450401.1:n.*1480C>A | |
| ENST00000703337.1:c.*1393+756C>A (DNM1L) | ENSP00000515262.1:n.*1393+756C>A | |
| ENST00000703338.1:c.1202C>A (DNM1L) | ENSP00000515264.1:p.Ala401Asp | |
| ENST00000703360.1:c.*1335C>A (DNM1L) | ENSP00000515270.1:n.*1335C>A | |
| ENST00000703361.1:c.1227+756C>A (DNM1L) | ENSP00000515273.1:n.1227+756C>A | |
| ENST00000703362.1:c.*963-347C>A (DNM1L) | ENSP00000515274.1:n.*963-347C>A | |
| ENST00000703363.1:n.3343C>A (DNM1L) | ||
| ENST00000703364.1:n.3347C>A (DNM1L) | ||
| ENST00000703365.1:c.*461+756C>A (DNM1L) | ENSP00000515276.1:n.*461+756C>A | |
| ENST00000703366.1:n.2709C>A (DNM1L) | ||
| ENST00000703367.1:c.1649C>A (DNM1L) | ENSP00000515277.1:p.Ala550Asp | |
| ENST00000703368.1:c.*1196C>A (DNM1L) | ENSP00000515278.1:n.*1196C>A | |
| ENST00000703369.1:c.1280C>A (DNM1L) | ENSP00000515279.1:p.Ala427Asp | |
| ENST00000703370.1:c.1202C>A (DNM1L) | ENSP00000515280.1:p.Ala401Asp | |
| ENST00000703371.1:c.1150-347C>A (DNM1L) | ENSP00000515281.1:n.1150-347C>A | |
| ENST00000549701.6:c.1649C>A (DNM1L) MANE Select | ENSP00000450399.1:p.Ala550Asp | |
| ENST00000553257.6:c.1688C>A (DNM1L) MANE Plus Clinical | ENSP00000449089.1:p.Ala563Asp | |
| ENST00000266481.10:c.1596+756C>A (DNM1L) | ENSP00000266481.6:n.1596+756C>A | |
| ENST00000358214.9:c.1635+756C>A (DNM1L) | ENSP00000350948.5:n.1635+756C>A | |
| ENST00000381000.8:c.1688C>A (DNM1L) | ENSP00000370388.4:p.Ala563Asp | |
| ENST00000414834.6:c.1040C>A (DNM1L) | ENSP00000404160.2:p.Ala347Asp | |
| ENST00000452533.6:c.1597-347C>A (DNM1L) | ENSP00000415131.2:n.1597-347C>A | |
| ENST00000546649.5:c.*891C>A (DNM1L) | ENSP00000448936.1:n.*891C>A | |
| ENST00000546757.5:c.1448-347C>A (DNM1L) | ENSP00000448105.1:n.1448-347C>A | |
| ENST00000547078.5:c.392C>A (DNM1L) | ||
| ENST00000547312.5:c.1649C>A (DNM1L) | ENSP00000448610.1:p.Ala550Asp | |
| ENST00000549701.5:c.1649C>A (DNM1L) | ENSP00000450399.1:p.Ala550Asp | |
| ENST00000550093.5:n.336C>A (DNM1L) | ||
| ENST00000551673.5:n.459+9159G>T (YARS2) | ||
| ENST00000552743.1:n.352C>A (DNM1L) | ||
| ENST00000553257.5:c.1688C>A (DNM1L) | ENSP00000449089.1:p.Ala563Asp | |
| NM_001278463.1:c.1649C>A (DNM1L) | NP_001265392.1:p.Ala550Asp | |
| NM_001278464.1:c.1688C>A (DNM1L) | NP_001265393.1:p.Ala563Asp | |
| NM_001278465.1:c.1688C>A (DNM1L) | NP_001265394.1:p.Ala563Asp | |
| NM_001278466.1:c.1040C>A (DNM1L) | NP_001265395.1:p.Ala347Asp | |
| NM_005690.4:c.1596+756C>A (DNM1L) | NP_005681.2:n.1596+756C>A | |
| NM_012062.4:c.1649C>A (DNM1L) | NP_036192.2:p.Ala550Asp | |
| NM_012063.3:c.1597-347C>A (DNM1L) | NP_036193.2:n.1597-347C>A | |
| XM_005253282.3:c.1635+756C>A (DNM1L) | XP_005253339.1:n.1635+756C>A | |
| XM_005253283.3:c.1202C>A (DNM1L) | XP_005253340.1:p.Ala401Asp | |
| XM_011520543.1:c.1636-347C>A (DNM1L) | XP_011518845.1:n.1636-347C>A | |
| XM_011520544.1:c.992C>A (DNM1L) | XP_011518846.1:p.Ala331Asp | |
| XR_242891.3:n.1775-6228G>T (YARS2) | ||
| XR_242892.3:n.1649+9159G>T (YARS2) | ||
| XR_429036.1:n.1650-6228G>T (YARS2) | ||
| XR_931297.1:n.1775-6228G>T (YARS2) | ||
| XR_931298.1:n.1650-6228G>T (YARS2) | ||
| XR_931299.1:n.1649+9159G>T (YARS2) | ||
| NM_001330380.1:c.1635+756C>A (DNM1L) | NP_001317309.1:n.1635+756C>A | |
| XM_011520543.3:c.1636-347C>A (DNM1L) | XP_011518845.1:n.1636-347C>A | |
| XM_011520544.2:c.992C>A (DNM1L) | XP_011518846.1:p.Ala331Asp | |
| XM_017018663.2:c.992C>A (DNM1L) | XP_016874152.1:p.Ala331Asp | |
| XM_017018664.1:c.940-347C>A (DNM1L) | XP_016874153.1:n.940-347C>A | |
| XM_017018665.1:c.939+756C>A (DNM1L) | XP_016874154.1:n.939+756C>A | |
| XR_001748730.2:n.2271+7763G>T (YARS2) | ||
| XR_002957331.1:n.2146+9159G>T (YARS2) | ||
| XR_242892.5:n.2146+9159G>T (YARS2) | ||
| NM_012062.5:c.1649C>A (DNM1L) MANE Select | NP_036192.2:p.Ala550Asp | |
| NM_001278463.2:c.1649C>A (DNM1L) | NP_001265392.1:p.Ala550Asp | |
| NM_001278464.2:c.1688C>A (DNM1L) MANE Plus Clinical | NP_001265393.1:p.Ala563Asp | |
| NM_001278465.2:c.1688C>A (DNM1L) | NP_001265394.1:p.Ala563Asp | |
| NM_001278466.2:c.1040C>A (DNM1L) | NP_001265395.1:p.Ala347Asp | |
| NM_001330380.2:c.1635+756C>A (DNM1L) | NP_001317309.1:n.1635+756C>A | |
| NM_005690.5:c.1596+756C>A (DNM1L) | NP_005681.2:n.1596+756C>A | |
| NM_012063.4:c.1597-347C>A (DNM1L) | NP_036193.2:n.1597-347C>A |