Linked Data
dbSNP Id:
rs1954521017
gnomAD v4:
12-32731026-T-G
MyVariant Identifiers:
chr12:g.32883960T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32731026T>G , CM000674.2:g.32731026T>G | GRCh38 |
| NC_000012.11:g.32883960T>G , CM000674.1:g.32883960T>G | GRCh37 |
| NC_000012.10:g.32775227T>G | NCBI36 |
| NG_012219.1:g.56824T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434676.7:c.*458T>G (DNM1L) | ENSP00000390090.2:n.*458T>G | |
| ENST00000546757.6:c.*778T>G (DNM1L) | ENSP00000448105.2:n.*778T>G | |
| ENST00000547078.6:c.1131T>G (DNM1L) | ENSP00000448802.2:p.Ala377= | |
| ENST00000547719.2:n.2725T>G (DNM1L) | ||
| ENST00000547932.6:c.*458T>G (DNM1L) | ENSP00000515272.1:n.*458T>G | |
| ENST00000548671.6:c.*639T>G (DNM1L) | ENSP00000515271.1:n.*639T>G | |
| ENST00000548750.6:c.1005T>G (DNM1L) | ENSP00000447788.2:p.Ala335= | |
| ENST00000549926.6:c.645T>G (DNM1L) | ENSP00000515263.1:p.Ala215= | |
| ENST00000550011.6:c.*1082T>G (DNM1L) | ENSP00000515261.1:n.*1082T>G | |
| ENST00000550093.6:n.1179T>G (DNM1L) | ||
| ENST00000551076.6:c.*709T>G (DNM1L) | ENSP00000515275.1:n.*709T>G | |
| ENST00000551476.6:c.1041T>G (DNM1L) | ENSP00000447845.2:p.Ala347= | |
| ENST00000551643.6:c.*923T>G (DNM1L) | ENSP00000450401.1:n.*923T>G | |
| ENST00000703337.1:c.*889T>G (DNM1L) | ENSP00000515262.1:n.*889T>G | |
| ENST00000703338.1:c.645T>G (DNM1L) | ENSP00000515264.1:p.Ala215= | |
| ENST00000703360.1:c.*778T>G (DNM1L) | ENSP00000515270.1:n.*778T>G | |
| ENST00000703361.1:c.723T>G (DNM1L) | ENSP00000515273.1:p.Ala241= | |
| ENST00000703362.1:c.*458T>G (DNM1L) | ENSP00000515274.1:n.*458T>G | |
| ENST00000703363.1:n.2713T>G (DNM1L) | ||
| ENST00000703364.1:n.2790T>G (DNM1L) | ||
| ENST00000703365.1:c.1118T>G (DNM1L) | ENSP00000515276.1:p.Leu373Arg | |
| ENST00000703366.1:n.2152T>G (DNM1L) | ||
| ENST00000703367.1:c.1092T>G (DNM1L) | ENSP00000515277.1:p.Ala364= | |
| ENST00000703368.1:c.*639T>G (DNM1L) | ENSP00000515278.1:n.*639T>G | |
| ENST00000703369.1:c.723T>G (DNM1L) | ENSP00000515279.1:p.Ala241= | |
| ENST00000703370.1:c.645T>G (DNM1L) | ENSP00000515280.1:p.Ala215= | |
| ENST00000703371.1:c.645T>G (DNM1L) | ENSP00000515281.1:p.Ala215= | |
| ENST00000703372.1:c.885T>G (DNM1L) | ENSP00000515282.1:p.Ala295= | |
| ENST00000549701.6:c.1092T>G (DNM1L) MANE Select | ENSP00000450399.1:p.Ala364= | |
| ENST00000553257.6:c.1131T>G (DNM1L) MANE Plus Clinical | ENSP00000449089.1:p.Ala377= | |
| ENST00000266481.10:c.1092T>G (DNM1L) | ENSP00000266481.6:p.Ala364= | |
| ENST00000358214.9:c.1131T>G (DNM1L) | ENSP00000350948.5:p.Ala377= | |
| ENST00000381000.8:c.1131T>G (DNM1L) | ENSP00000370388.4:p.Ala377= | |
| ENST00000413295.6:c.*341T>G (DNM1L) | ENSP00000396030.2:n.*341T>G | |
| ENST00000414834.6:c.483T>G (DNM1L) | ENSP00000404160.2:p.Ala161= | |
| ENST00000434676.6:c.*458T>G (DNM1L) | ENSP00000390090.2:n.*458T>G | |
| ENST00000452533.6:c.1092T>G (DNM1L) | ENSP00000415131.2:p.Ala364= | |
| ENST00000546649.5:c.*334T>G (DNM1L) | ENSP00000448936.1:n.*334T>G | |
| ENST00000546757.5:c.943T>G (DNM1L) | ENSP00000448105.1:n.943T>G | |
| ENST00000547312.5:c.1092T>G (DNM1L) | ENSP00000448610.1:p.Ala364= | |
| ENST00000549701.5:c.1092T>G (DNM1L) | ENSP00000450399.1:p.Ala364= | |
| ENST00000551673.5:n.460-3507A>C (YARS2) | ||
| ENST00000553257.5:c.1131T>G (DNM1L) | ENSP00000449089.1:p.Ala377= | |
| NM_001278463.1:c.1092T>G (DNM1L) | NP_001265392.1:p.Ala364= | |
| NM_001278464.1:c.1131T>G (DNM1L) | NP_001265393.1:p.Ala377= | |
| NM_001278465.1:c.1131T>G (DNM1L) | NP_001265394.1:p.Ala377= | |
| NM_001278466.1:c.483T>G (DNM1L) | NP_001265395.1:p.Ala161= | |
| NM_005690.4:c.1092T>G (DNM1L) | NP_005681.2:p.Ala364= | |
| NM_012062.4:c.1092T>G (DNM1L) | NP_036192.2:p.Ala364= | |
| NM_012063.3:c.1092T>G (DNM1L) | NP_036193.2:p.Ala364= | |
| XM_005253282.3:c.1131T>G (DNM1L) | XP_005253339.1:p.Ala377= | |
| XM_005253283.3:c.645T>G (DNM1L) | XP_005253340.1:p.Ala215= | |
| XM_011520543.1:c.1131T>G (DNM1L) | XP_011518845.1:p.Ala377= | |
| XM_011520544.1:c.435T>G (DNM1L) | XP_011518846.1:p.Ala145= | |
| XR_242891.3:n.1832+606A>C (YARS2) | ||
| XR_242892.3:n.1650-5661A>C (YARS2) | ||
| XR_429036.1:n.1707+606A>C (YARS2) | ||
| XR_931297.1:n.1832+606A>C (YARS2) | ||
| XR_931298.1:n.1707+606A>C (YARS2) | ||
| XR_931299.1:n.1650-3507A>C (YARS2) | ||
| NM_001330380.1:c.1131T>G (DNM1L) | NP_001317309.1:p.Ala377= | |
| XM_011520543.3:c.1131T>G (DNM1L) | XP_011518845.1:p.Ala377= | |
| XM_011520544.2:c.435T>G (DNM1L) | XP_011518846.1:p.Ala145= | |
| XM_017018663.2:c.435T>G (DNM1L) | XP_016874152.1:p.Ala145= | |
| XM_017018664.1:c.435T>G (DNM1L) | XP_016874153.1:p.Ala145= | |
| XM_017018665.1:c.435T>G (DNM1L) | XP_016874154.1:p.Ala145= | |
| XR_001748730.2:n.2272-5661A>C (YARS2) | ||
| XR_002957331.1:n.2147-3507A>C (YARS2) | ||
| XR_242892.5:n.2147-5661A>C (YARS2) | ||
| NM_012062.5:c.1092T>G (DNM1L) MANE Select | NP_036192.2:p.Ala364= | |
| NM_001278463.2:c.1092T>G (DNM1L) | NP_001265392.1:p.Ala364= | |
| NM_001278464.2:c.1131T>G (DNM1L) MANE Plus Clinical | NP_001265393.1:p.Ala377= | |
| NM_001278465.2:c.1131T>G (DNM1L) | NP_001265394.1:p.Ala377= | |
| NM_001278466.2:c.483T>G (DNM1L) | NP_001265395.1:p.Ala161= | |
| NM_001330380.2:c.1131T>G (DNM1L) | NP_001317309.1:p.Ala377= | |
| NM_005690.5:c.1092T>G (DNM1L) | NP_005681.2:p.Ala364= | |
| NM_012063.4:c.1092T>G (DNM1L) | NP_036193.2:p.Ala364= |