ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000452533
0.867
ENST00000411996
0.867
ENST00000266479
0.867
ENST00000553257 (MANE Plus Clinical)
0.867
ENST00000549701 (MANE Select)
0.867
ENST00000358214
0.867
ENST00000266481
0.867
ENST00000547312
0.867
ENST00000414834
0.867
ENST00000381000
0.867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32731492G>T , CM000674.2:g.32731492G>T | GRCh38 |
| NC_000012.11:g.32884426G>T , CM000674.1:g.32884426G>T | GRCh37 |
| NC_000012.10:g.32775693G>T | NCBI36 |
| NG_012219.1:g.57290G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.*703G>T (DNM1L) | ENSP00000390090.2:n.*703G>T | |
| ENST00000546757.6:c.*1023G>T (DNM1L) | ENSP00000448105.2:n.*1023G>T | |
| ENST00000547078.6:c.1376G>T (DNM1L) | ENSP00000448802.2:p.Cys459Phe | |
| ENST00000547719.2:n.2970G>T (DNM1L) | ||
| ENST00000547932.6:c.*703G>T (DNM1L) | ENSP00000515272.1:n.*703G>T | |
| ENST00000548671.6:c.*884G>T (DNM1L) | ENSP00000515271.1:n.*884G>T | |
| ENST00000548750.6:c.1250G>T (DNM1L) | ENSP00000447788.2:p.Cys417Phe | |
| ENST00000549926.6:c.890G>T (DNM1L) | ENSP00000515263.1:p.Cys297Phe | |
| ENST00000550011.6:c.*1327G>T (DNM1L) | ENSP00000515261.1:n.*1327G>T | |
| ENST00000550093.6:n.1424G>T (DNM1L) | ||
| ENST00000551076.6:c.*954G>T (DNM1L) | ENSP00000515275.1:n.*954G>T | |
| ENST00000551476.6:c.1286G>T (DNM1L) | ENSP00000447845.2:p.Cys429Phe | |
| ENST00000551643.6:c.*1168G>T (DNM1L) | ENSP00000450401.1:n.*1168G>T | |
| ENST00000703337.1:c.*1134G>T (DNM1L) | ENSP00000515262.1:n.*1134G>T | |
| ENST00000703338.1:c.890G>T (DNM1L) | ENSP00000515264.1:p.Cys297Phe | |
| ENST00000703360.1:c.*1023G>T (DNM1L) | ENSP00000515270.1:n.*1023G>T | |
| ENST00000703361.1:c.968G>T (DNM1L) | ENSP00000515273.1:p.Cys323Phe | |
| ENST00000703362.1:c.*703G>T (DNM1L) | ENSP00000515274.1:n.*703G>T | |
| ENST00000703363.1:n.2958G>T (DNM1L) | ||
| ENST00000703364.1:n.3035G>T (DNM1L) | ||
| ENST00000703365.1:c.*202G>T (DNM1L) | ENSP00000515276.1:n.*202G>T | |
| ENST00000703366.1:n.2397G>T (DNM1L) | ||
| ENST00000703367.1:c.1337G>T (DNM1L) | ENSP00000515277.1:p.Cys446Phe | |
| ENST00000703368.1:c.*884G>T (DNM1L) | ENSP00000515278.1:n.*884G>T | |
| ENST00000703369.1:c.968G>T (DNM1L) | ENSP00000515279.1:p.Cys323Phe | |
| ENST00000703370.1:c.890G>T (DNM1L) | ENSP00000515280.1:p.Cys297Phe | |
| ENST00000703371.1:c.890G>T (DNM1L) | ENSP00000515281.1:p.Cys297Phe | |
| ENST00000703372.1:c.1130G>T (DNM1L) | ENSP00000515282.1:p.Cys377Phe | |
| ENST00000549701.6:c.1337G>T (DNM1L) MANE Select | ENSP00000450399.1:p.Cys446Phe | |
| ENST00000553257.6:c.1376G>T (DNM1L) MANE Plus Clinical | ENSP00000449089.1:p.Cys459Phe | |
| ENST00000266481.10:c.1337G>T (DNM1L) | ENSP00000266481.6:p.Cys446Phe | |
| ENST00000358214.9:c.1376G>T (DNM1L) | ENSP00000350948.5:p.Cys459Phe | |
| ENST00000381000.8:c.1376G>T (DNM1L) | ENSP00000370388.4:p.Cys459Phe | |
| ENST00000414834.6:c.728G>T (DNM1L) | ENSP00000404160.2:p.Cys243Phe | |
| ENST00000452533.6:c.1337G>T (DNM1L) | ENSP00000415131.2:p.Cys446Phe | |
| ENST00000546649.5:c.*579G>T (DNM1L) | ENSP00000448936.1:n.*579G>T | |
| ENST00000546757.5:c.1188G>T (DNM1L) | ENSP00000448105.1:n.1188G>T | |
| ENST00000547078.5:c.7G>T (DNM1L) | ||
| ENST00000547312.5:c.1337G>T (DNM1L) | ENSP00000448610.1:p.Cys446Phe | |
| ENST00000549701.5:c.1337G>T (DNM1L) | ENSP00000450399.1:p.Cys446Phe | |
| ENST00000550093.5:n.24G>T (DNM1L) | ||
| ENST00000551673.5:n.460-3973C>A (YARS2) | ||
| ENST00000553257.5:c.1376G>T (DNM1L) | ENSP00000449089.1:p.Cys459Phe | |
| NM_001278463.1:c.1337G>T (DNM1L) | NP_001265392.1:p.Cys446Phe | |
| NM_001278464.1:c.1376G>T (DNM1L) | NP_001265393.1:p.Cys459Phe | |
| NM_001278465.1:c.1376G>T (DNM1L) | NP_001265394.1:p.Cys459Phe | |
| NM_001278466.1:c.728G>T (DNM1L) | NP_001265395.1:p.Cys243Phe | |
| NM_005690.4:c.1337G>T (DNM1L) | NP_005681.2:p.Cys446Phe | |
| NM_012062.4:c.1337G>T (DNM1L) | NP_036192.2:p.Cys446Phe | |
| NM_012063.3:c.1337G>T (DNM1L) | NP_036193.2:p.Cys446Phe | |
| XM_005253282.3:c.1376G>T (DNM1L) | XP_005253339.1:p.Cys459Phe | |
| XM_005253283.3:c.890G>T (DNM1L) | XP_005253340.1:p.Cys297Phe | |
| XM_011520543.1:c.1376G>T (DNM1L) | XP_011518845.1:p.Cys459Phe | |
| XM_011520544.1:c.680G>T (DNM1L) | XP_011518846.1:p.Cys227Phe | |
| XR_242891.3:n.1832+140C>A (YARS2) | ||
| XR_242892.3:n.1650-6127C>A (YARS2) | ||
| XR_429036.1:n.1707+140C>A (YARS2) | ||
| XR_931297.1:n.1832+140C>A (YARS2) | ||
| XR_931298.1:n.1707+140C>A (YARS2) | ||
| XR_931299.1:n.1650-3973C>A (YARS2) | ||
| NM_001330380.1:c.1376G>T (DNM1L) | NP_001317309.1:p.Cys459Phe | |
| XM_011520543.3:c.1376G>T (DNM1L) | XP_011518845.1:p.Cys459Phe | |
| XM_011520544.2:c.680G>T (DNM1L) | XP_011518846.1:p.Cys227Phe | |
| XM_017018663.2:c.680G>T (DNM1L) | XP_016874152.1:p.Cys227Phe | |
| XM_017018664.1:c.680G>T (DNM1L) | XP_016874153.1:p.Cys227Phe | |
| XM_017018665.1:c.680G>T (DNM1L) | XP_016874154.1:p.Cys227Phe | |
| XR_001748730.2:n.2272-6127C>A (YARS2) | ||
| XR_002957331.1:n.2147-3973C>A (YARS2) | ||
| XR_242892.5:n.2147-6127C>A (YARS2) | ||
| NM_012062.5:c.1337G>T (DNM1L) MANE Select | NP_036192.2:p.Cys446Phe | |
| NM_001278463.2:c.1337G>T (DNM1L) | NP_001265392.1:p.Cys446Phe | |
| NM_001278464.2:c.1376G>T (DNM1L) MANE Plus Clinical | NP_001265393.1:p.Cys459Phe | |
| NM_001278465.2:c.1376G>T (DNM1L) | NP_001265394.1:p.Cys459Phe | |
| NM_001278466.2:c.728G>T (DNM1L) | NP_001265395.1:p.Cys243Phe | |
| NM_001330380.2:c.1376G>T (DNM1L) | NP_001317309.1:p.Cys459Phe | |
| NM_005690.5:c.1337G>T (DNM1L) | NP_005681.2:p.Cys446Phe | |
| NM_012063.4:c.1337G>T (DNM1L) | NP_036193.2:p.Cys446Phe |