Linked Data
ClinVar Variation Id:
308400
dbSNP Id:
rs1020670
gnomAD v2:
12-32896615-C-G
gnomAD v3:
12-32743681-C-G
gnomAD v4:
12-32743681-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32743681C>G , CM000674.2:g.32743681C>G | GRCh38 |
| NC_000012.11:g.32896615C>G , CM000674.1:g.32896615C>G | GRCh37 |
| NC_000012.10:g.32787882C>G | NCBI36 |
| NG_012219.1:g.69479C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.*1737C>G (DNM1L) | ENSP00000390090.2:n.*1737C>G | |
| ENST00000546757.6:c.*2090C>G (DNM1L) | ENSP00000448105.2:n.*2090C>G | |
| ENST00000547078.6:c.*1079C>G (DNM1L) | ENSP00000448802.2:n.*1079C>G | |
| ENST00000547719.2:n.4082C>G (DNM1L) | ||
| ENST00000547932.6:c.*1848C>G (DNM1L) | ENSP00000515272.1:n.*1848C>G | |
| ENST00000548750.6:c.*271C>G (DNM1L) | ENSP00000447788.2:n.*271C>G | |
| ENST00000550011.6:c.*2434C>G (DNM1L) | ENSP00000515261.1:n.*2434C>G | |
| ENST00000551076.6:c.*2066C>G (DNM1L) | ENSP00000515275.1:n.*2066C>G | |
| ENST00000551643.6:c.*2313C>G (DNM1L) | ENSP00000450401.1:n.*2313C>G | |
| ENST00000703338.1:c.*271C>G (DNM1L) | ENSP00000515264.1:n.*271C>G | |
| ENST00000703360.1:c.*2168C>G (DNM1L) | ENSP00000515270.1:n.*2168C>G | |
| ENST00000703361.1:c.*271C>G (DNM1L) | ENSP00000515273.1:n.*271C>G | |
| ENST00000703362.1:c.*1770C>G (DNM1L) | ENSP00000515274.1:n.*1770C>G | |
| ENST00000703364.1:n.4180C>G (DNM1L) | ||
| ENST00000703368.1:c.*1996C>G (DNM1L) | ENSP00000515278.1:n.*1996C>G | |
| ENST00000703369.1:c.2080C>G (DNM1L) | ENSP00000515279.1:n.2080C>G | |
| ENST00000703371.1:c.*271C>G (DNM1L) | ENSP00000515281.1:n.*271C>G | |
| ENST00000549701.6:c.*271C>G (DNM1L) MANE Select | ENSP00000450399.1:n.*271C>G | |
| ENST00000553257.6:c.*271C>G (DNM1L) MANE Plus Clinical | ENSP00000449089.1:n.*271C>G | |
| ENST00000266481.10:c.*271C>G (DNM1L) | ENSP00000266481.6:n.*271C>G | |
| ENST00000358214.9:c.*271C>G (DNM1L) | ENSP00000350948.5:n.*271C>G | |
| ENST00000381000.8:c.*271C>G (DNM1L) | ENSP00000370388.4:n.*271C>G | |
| ENST00000414834.6:c.*271C>G (DNM1L) | ENSP00000404160.2:n.*271C>G | |
| ENST00000452533.6:c.*271C>G (DNM1L) | ENSP00000415131.2:n.*271C>G | |
| ENST00000546757.5:c.2255C>G (DNM1L) | ENSP00000448105.1:n.2255C>G | |
| ENST00000551673.5:n.459+3395G>C (YARS2) | ||
| ENST00000553257.5:c.*271C>G (DNM1L) | ENSP00000449089.1:n.*271C>G | |
| NM_001278463.1:c.*271C>G (DNM1L) | NP_001265392.1:n.*271C>G | |
| NM_001278464.1:c.*271C>G (DNM1L) | NP_001265393.1:n.*271C>G | |
| NM_001278465.1:c.*271C>G (DNM1L) | NP_001265394.1:n.*271C>G | |
| NM_001278466.1:c.*271C>G (DNM1L) | NP_001265395.1:n.*271C>G | |
| NM_005690.4:c.*271C>G (DNM1L) | NP_005681.2:n.*271C>G | |
| NM_012062.4:c.*271C>G (DNM1L) | NP_036192.2:n.*271C>G | |
| NM_012063.3:c.*271C>G (DNM1L) | NP_036193.2:n.*271C>G | |
| XM_005253282.3:c.*271C>G (DNM1L) | XP_005253339.1:n.*271C>G | |
| XM_005253283.3:c.*271C>G (DNM1L) | XP_005253340.1:n.*271C>G | |
| XM_011520543.1:c.*271C>G (DNM1L) | XP_011518845.1:n.*271C>G | |
| XM_011520544.1:c.*271C>G (DNM1L) | XP_011518846.1:n.*271C>G | |
| XR_242891.3:n.1774+1999G>C (YARS2) | ||
| XR_242892.3:n.1649+3395G>C (YARS2) | ||
| XR_429036.1:n.1649+3395G>C (YARS2) | ||
| XR_931297.1:n.1774+1999G>C (YARS2) | ||
| XR_931298.1:n.1649+3395G>C (YARS2) | ||
| XR_931299.1:n.1649+3395G>C (YARS2) | ||
| NM_001330380.1:c.*271C>G (DNM1L) | NP_001317309.1:n.*271C>G | |
| XM_011520543.3:c.*271C>G (DNM1L) | XP_011518845.1:n.*271C>G | |
| XM_011520544.2:c.*271C>G (DNM1L) | XP_011518846.1:n.*271C>G | |
| XM_017018663.2:c.*271C>G (DNM1L) | XP_016874152.1:n.*271C>G | |
| XM_017018664.1:c.*271C>G (DNM1L) | XP_016874153.1:n.*271C>G | |
| XM_017018665.1:c.*271C>G (DNM1L) | XP_016874154.1:n.*271C>G | |
| XR_001748730.2:n.2271+1999G>C (YARS2) | ||
| XR_002957331.1:n.2146+3395G>C (YARS2) | ||
| XR_242892.5:n.2146+3395G>C (YARS2) | ||
| NM_012062.5:c.*271C>G (DNM1L) MANE Select | NP_036192.2:n.*271C>G | |
| NM_001278463.2:c.*271C>G (DNM1L) | NP_001265392.1:n.*271C>G | |
| NM_001278464.2:c.*271C>G (DNM1L) MANE Plus Clinical | NP_001265393.1:n.*271C>G | |
| NM_001278465.2:c.*271C>G (DNM1L) | NP_001265394.1:n.*271C>G | |
| NM_001278466.2:c.*271C>G (DNM1L) | NP_001265395.1:n.*271C>G | |
| NM_001330380.2:c.*271C>G (DNM1L) | NP_001317309.1:n.*271C>G | |
| NM_005690.5:c.*271C>G (DNM1L) | NP_005681.2:n.*271C>G | |
| NM_012063.4:c.*271C>G (DNM1L) | NP_036193.2:n.*271C>G |