UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
MyVariant Identifiers:
chr12:g.32884065T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32731131T>G , CM000674.2:g.32731131T>G | GRCh38 |
| NC_000012.11:g.32884065T>G , CM000674.1:g.32884065T>G | GRCh37 |
| NC_000012.10:g.32775332T>G | NCBI36 |
| NG_012219.1:g.56929T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434676.7:c.*563T>G (DNM1L) | ENSP00000390090.2:n.*563T>G | |
| ENST00000546757.6:c.*883T>G (DNM1L) | ENSP00000448105.2:n.*883T>G | |
| ENST00000547078.6:c.1236T>G (DNM1L) | ENSP00000448802.2:p.Ala412= | |
| ENST00000547719.2:n.2830T>G (DNM1L) | ||
| ENST00000547932.6:c.*563T>G (DNM1L) | ENSP00000515272.1:n.*563T>G | |
| ENST00000548671.6:c.*744T>G (DNM1L) | ENSP00000515271.1:n.*744T>G | |
| ENST00000548750.6:c.1110T>G (DNM1L) | ENSP00000447788.2:p.Ala370= | |
| ENST00000549926.6:c.750T>G (DNM1L) | ENSP00000515263.1:p.Ala250= | |
| ENST00000550011.6:c.*1187T>G (DNM1L) | ENSP00000515261.1:n.*1187T>G | |
| ENST00000550093.6:n.1284T>G (DNM1L) | ||
| ENST00000551076.6:c.*814T>G (DNM1L) | ENSP00000515275.1:n.*814T>G | |
| ENST00000551476.6:c.1146T>G (DNM1L) | ENSP00000447845.2:p.Ala382= | |
| ENST00000551643.6:c.*1028T>G (DNM1L) | ENSP00000450401.1:n.*1028T>G | |
| ENST00000703337.1:c.*994T>G (DNM1L) | ENSP00000515262.1:n.*994T>G | |
| ENST00000703338.1:c.750T>G (DNM1L) | ENSP00000515264.1:p.Ala250= | |
| ENST00000703360.1:c.*883T>G (DNM1L) | ENSP00000515270.1:n.*883T>G | |
| ENST00000703361.1:c.828T>G (DNM1L) | ENSP00000515273.1:p.Ala276= | |
| ENST00000703362.1:c.*563T>G (DNM1L) | ENSP00000515274.1:n.*563T>G | |
| ENST00000703363.1:n.2818T>G (DNM1L) | ||
| ENST00000703364.1:n.2895T>G (DNM1L) | ||
| ENST00000703365.1:c.*62T>G (DNM1L) | ENSP00000515276.1:n.*62T>G | |
| ENST00000703366.1:n.2257T>G (DNM1L) | ||
| ENST00000703367.1:c.1197T>G (DNM1L) | ENSP00000515277.1:p.Ala399= | |
| ENST00000703368.1:c.*744T>G (DNM1L) | ENSP00000515278.1:n.*744T>G | |
| ENST00000703369.1:c.828T>G (DNM1L) | ENSP00000515279.1:p.Ala276= | |
| ENST00000703370.1:c.750T>G (DNM1L) | ENSP00000515280.1:p.Ala250= | |
| ENST00000703371.1:c.750T>G (DNM1L) | ENSP00000515281.1:p.Ala250= | |
| ENST00000703372.1:c.990T>G (DNM1L) | ENSP00000515282.1:p.Ala330= | |
| ENST00000549701.6:c.1197T>G (DNM1L) MANE Select | ENSP00000450399.1:p.Ala399= | |
| ENST00000553257.6:c.1236T>G (DNM1L) MANE Plus Clinical | ENSP00000449089.1:p.Ala412= | |
| ENST00000266481.10:c.1197T>G (DNM1L) | ENSP00000266481.6:p.Ala399= | |
| ENST00000358214.9:c.1236T>G (DNM1L) | ENSP00000350948.5:p.Ala412= | |
| ENST00000381000.8:c.1236T>G (DNM1L) | ENSP00000370388.4:p.Ala412= | |
| ENST00000413295.6:c.*446T>G (DNM1L) | ENSP00000396030.2:n.*446T>G | |
| ENST00000414834.6:c.588T>G (DNM1L) | ENSP00000404160.2:p.Ala196= | |
| ENST00000452533.6:c.1197T>G (DNM1L) | ENSP00000415131.2:p.Ala399= | |
| ENST00000546649.5:c.*439T>G (DNM1L) | ENSP00000448936.1:n.*439T>G | |
| ENST00000546757.5:c.1048T>G (DNM1L) | ENSP00000448105.1:n.1048T>G | |
| ENST00000547312.5:c.1197T>G (DNM1L) | ENSP00000448610.1:p.Ala399= | |
| ENST00000549701.5:c.1197T>G (DNM1L) | ENSP00000450399.1:p.Ala399= | |
| ENST00000551673.5:n.460-3612A>C (YARS2) | ||
| ENST00000553257.5:c.1236T>G (DNM1L) | ENSP00000449089.1:p.Ala412= | |
| NM_001278463.1:c.1197T>G (DNM1L) | NP_001265392.1:p.Ala399= | |
| NM_001278464.1:c.1236T>G (DNM1L) | NP_001265393.1:p.Ala412= | |
| NM_001278465.1:c.1236T>G (DNM1L) | NP_001265394.1:p.Ala412= | |
| NM_001278466.1:c.588T>G (DNM1L) | NP_001265395.1:p.Ala196= | |
| NM_005690.4:c.1197T>G (DNM1L) | NP_005681.2:p.Ala399= | |
| NM_012062.4:c.1197T>G (DNM1L) | NP_036192.2:p.Ala399= | |
| NM_012063.3:c.1197T>G (DNM1L) | NP_036193.2:p.Ala399= | |
| XM_005253282.3:c.1236T>G (DNM1L) | XP_005253339.1:p.Ala412= | |
| XM_005253283.3:c.750T>G (DNM1L) | XP_005253340.1:p.Ala250= | |
| XM_011520543.1:c.1236T>G (DNM1L) | XP_011518845.1:p.Ala412= | |
| XM_011520544.1:c.540T>G (DNM1L) | XP_011518846.1:p.Ala180= | |
| XR_242891.3:n.1832+501A>C (YARS2) | ||
| XR_242892.3:n.1650-5766A>C (YARS2) | ||
| XR_429036.1:n.1707+501A>C (YARS2) | ||
| XR_931297.1:n.1832+501A>C (YARS2) | ||
| XR_931298.1:n.1707+501A>C (YARS2) | ||
| XR_931299.1:n.1650-3612A>C (YARS2) | ||
| NM_001330380.1:c.1236T>G (DNM1L) | NP_001317309.1:p.Ala412= | |
| XM_011520543.3:c.1236T>G (DNM1L) | XP_011518845.1:p.Ala412= | |
| XM_011520544.2:c.540T>G (DNM1L) | XP_011518846.1:p.Ala180= | |
| XM_017018663.2:c.540T>G (DNM1L) | XP_016874152.1:p.Ala180= | |
| XM_017018664.1:c.540T>G (DNM1L) | XP_016874153.1:p.Ala180= | |
| XM_017018665.1:c.540T>G (DNM1L) | XP_016874154.1:p.Ala180= | |
| XR_001748730.2:n.2272-5766A>C (YARS2) | ||
| XR_002957331.1:n.2147-3612A>C (YARS2) | ||
| XR_242892.5:n.2147-5766A>C (YARS2) | ||
| NM_012062.5:c.1197T>G (DNM1L) MANE Select | NP_036192.2:p.Ala399= | |
| NM_001278463.2:c.1197T>G (DNM1L) | NP_001265392.1:p.Ala399= | |
| NM_001278464.2:c.1236T>G (DNM1L) MANE Plus Clinical | NP_001265393.1:p.Ala412= | |
| NM_001278465.2:c.1236T>G (DNM1L) | NP_001265394.1:p.Ala412= | |
| NM_001278466.2:c.588T>G (DNM1L) | NP_001265395.1:p.Ala196= | |
| NM_001330380.2:c.1236T>G (DNM1L) | NP_001317309.1:p.Ala412= | |
| NM_005690.5:c.1197T>G (DNM1L) | NP_005681.2:p.Ala399= | |
| NM_012063.4:c.1197T>G (DNM1L) | NP_036193.2:p.Ala399= |