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.32884008T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32731074T>C , CM000674.2:g.32731074T>C | GRCh38 |
| NC_000012.11:g.32884008T>C , CM000674.1:g.32884008T>C | GRCh37 |
| NC_000012.10:g.32775275T>C | NCBI36 |
| NG_012219.1:g.56872T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000434676.7:c.*506T>C (DNM1L) | ENSP00000390090.2:n.*506T>C | |
| ENST00000546757.6:c.*826T>C (DNM1L) | ENSP00000448105.2:n.*826T>C | |
| ENST00000547078.6:c.1179T>C (DNM1L) | ENSP00000448802.2:p.Ser393= | |
| ENST00000547719.2:n.2773T>C (DNM1L) | ||
| ENST00000547932.6:c.*506T>C (DNM1L) | ENSP00000515272.1:n.*506T>C | |
| ENST00000548671.6:c.*687T>C (DNM1L) | ENSP00000515271.1:n.*687T>C | |
| ENST00000548750.6:c.1053T>C (DNM1L) | ENSP00000447788.2:p.Ser351= | |
| ENST00000549926.6:c.693T>C (DNM1L) | ENSP00000515263.1:p.Ser231= | |
| ENST00000550011.6:c.*1130T>C (DNM1L) | ENSP00000515261.1:n.*1130T>C | |
| ENST00000550093.6:n.1227T>C (DNM1L) | ||
| ENST00000551076.6:c.*757T>C (DNM1L) | ENSP00000515275.1:n.*757T>C | |
| ENST00000551476.6:c.1089T>C (DNM1L) | ENSP00000447845.2:p.Ser363= | |
| ENST00000551643.6:c.*971T>C (DNM1L) | ENSP00000450401.1:n.*971T>C | |
| ENST00000703337.1:c.*937T>C (DNM1L) | ENSP00000515262.1:n.*937T>C | |
| ENST00000703338.1:c.693T>C (DNM1L) | ENSP00000515264.1:p.Ser231= | |
| ENST00000703360.1:c.*826T>C (DNM1L) | ENSP00000515270.1:n.*826T>C | |
| ENST00000703361.1:c.771T>C (DNM1L) | ENSP00000515273.1:p.Ser257= | |
| ENST00000703362.1:c.*506T>C (DNM1L) | ENSP00000515274.1:n.*506T>C | |
| ENST00000703363.1:n.2761T>C (DNM1L) | ||
| ENST00000703364.1:n.2838T>C (DNM1L) | ||
| ENST00000703365.1:c.*5T>C (DNM1L) | ENSP00000515276.1:n.*5T>C | |
| ENST00000703366.1:n.2200T>C (DNM1L) | ||
| ENST00000703367.1:c.1140T>C (DNM1L) | ENSP00000515277.1:p.Ser380= | |
| ENST00000703368.1:c.*687T>C (DNM1L) | ENSP00000515278.1:n.*687T>C | |
| ENST00000703369.1:c.771T>C (DNM1L) | ENSP00000515279.1:p.Ser257= | |
| ENST00000703370.1:c.693T>C (DNM1L) | ENSP00000515280.1:p.Ser231= | |
| ENST00000703371.1:c.693T>C (DNM1L) | ENSP00000515281.1:p.Ser231= | |
| ENST00000703372.1:c.933T>C (DNM1L) | ENSP00000515282.1:p.Ser311= | |
| ENST00000549701.6:c.1140T>C (DNM1L) MANE Select | ENSP00000450399.1:p.Ser380= | |
| ENST00000553257.6:c.1179T>C (DNM1L) MANE Plus Clinical | ENSP00000449089.1:p.Ser393= | |
| ENST00000266481.10:c.1140T>C (DNM1L) | ENSP00000266481.6:p.Ser380= | |
| ENST00000358214.9:c.1179T>C (DNM1L) | ENSP00000350948.5:p.Ser393= | |
| ENST00000381000.8:c.1179T>C (DNM1L) | ENSP00000370388.4:p.Ser393= | |
| ENST00000413295.6:c.*389T>C (DNM1L) | ENSP00000396030.2:n.*389T>C | |
| ENST00000414834.6:c.531T>C (DNM1L) | ENSP00000404160.2:p.Ser177= | |
| ENST00000452533.6:c.1140T>C (DNM1L) | ENSP00000415131.2:p.Ser380= | |
| ENST00000546649.5:c.*382T>C (DNM1L) | ENSP00000448936.1:n.*382T>C | |
| ENST00000546757.5:c.991T>C (DNM1L) | ENSP00000448105.1:n.991T>C | |
| ENST00000547312.5:c.1140T>C (DNM1L) | ENSP00000448610.1:p.Ser380= | |
| ENST00000549701.5:c.1140T>C (DNM1L) | ENSP00000450399.1:p.Ser380= | |
| ENST00000551673.5:n.460-3555A>G (YARS2) | ||
| ENST00000553257.5:c.1179T>C (DNM1L) | ENSP00000449089.1:p.Ser393= | |
| NM_001278463.1:c.1140T>C (DNM1L) | NP_001265392.1:p.Ser380= | |
| NM_001278464.1:c.1179T>C (DNM1L) | NP_001265393.1:p.Ser393= | |
| NM_001278465.1:c.1179T>C (DNM1L) | NP_001265394.1:p.Ser393= | |
| NM_001278466.1:c.531T>C (DNM1L) | NP_001265395.1:p.Ser177= | |
| NM_005690.4:c.1140T>C (DNM1L) | NP_005681.2:p.Ser380= | |
| NM_012062.4:c.1140T>C (DNM1L) | NP_036192.2:p.Ser380= | |
| NM_012063.3:c.1140T>C (DNM1L) | NP_036193.2:p.Ser380= | |
| XM_005253282.3:c.1179T>C (DNM1L) | XP_005253339.1:p.Ser393= | |
| XM_005253283.3:c.693T>C (DNM1L) | XP_005253340.1:p.Ser231= | |
| XM_011520543.1:c.1179T>C (DNM1L) | XP_011518845.1:p.Ser393= | |
| XM_011520544.1:c.483T>C (DNM1L) | XP_011518846.1:p.Ser161= | |
| XR_242891.3:n.1832+558A>G (YARS2) | ||
| XR_242892.3:n.1650-5709A>G (YARS2) | ||
| XR_429036.1:n.1707+558A>G (YARS2) | ||
| XR_931297.1:n.1832+558A>G (YARS2) | ||
| XR_931298.1:n.1707+558A>G (YARS2) | ||
| XR_931299.1:n.1650-3555A>G (YARS2) | ||
| NM_001330380.1:c.1179T>C (DNM1L) | NP_001317309.1:p.Ser393= | |
| XM_011520543.3:c.1179T>C (DNM1L) | XP_011518845.1:p.Ser393= | |
| XM_011520544.2:c.483T>C (DNM1L) | XP_011518846.1:p.Ser161= | |
| XM_017018663.2:c.483T>C (DNM1L) | XP_016874152.1:p.Ser161= | |
| XM_017018664.1:c.483T>C (DNM1L) | XP_016874153.1:p.Ser161= | |
| XM_017018665.1:c.483T>C (DNM1L) | XP_016874154.1:p.Ser161= | |
| XR_001748730.2:n.2272-5709A>G (YARS2) | ||
| XR_002957331.1:n.2147-3555A>G (YARS2) | ||
| XR_242892.5:n.2147-5709A>G (YARS2) | ||
| NM_012062.5:c.1140T>C (DNM1L) MANE Select | NP_036192.2:p.Ser380= | |
| NM_001278463.2:c.1140T>C (DNM1L) | NP_001265392.1:p.Ser380= | |
| NM_001278464.2:c.1179T>C (DNM1L) MANE Plus Clinical | NP_001265393.1:p.Ser393= | |
| NM_001278465.2:c.1179T>C (DNM1L) | NP_001265394.1:p.Ser393= | |
| NM_001278466.2:c.531T>C (DNM1L) | NP_001265395.1:p.Ser177= | |
| NM_001330380.2:c.1179T>C (DNM1L) | NP_001317309.1:p.Ser393= | |
| NM_005690.5:c.1140T>C (DNM1L) | NP_005681.2:p.Ser380= | |
| NM_012063.4:c.1140T>C (DNM1L) | NP_036193.2:p.Ser380= |