Linked Data
ClinVar Variation Id:
747180
ClinVar RCV Id:
RCV000923864
dbSNP Id:
rs1438717148
gnomAD v2:
2-99779146-T-C
gnomAD v4:
2-99162683-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.99162683T>C , CM000664.2:g.99162683T>C | GRCh38 |
| NC_000002.11:g.99779146T>C , CM000664.1:g.99779146T>C | GRCh37 |
| NC_000002.10:g.99145578T>C | NCBI36 |
| NG_050665.1:g.12729T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651691.1:c.726T>C (LIPT1) MANE Select | ENSP00000498546.1:p.Asp242= | |
| ENST00000393471.2:c.726T>C (LIPT1) | ENSP00000377114.2:p.Asp242= | |
| ENST00000393473.6:c.726T>C (LIPT1) | ENSP00000377115.2:p.Asp242= | |
| ENST00000410042.1:c.-28+6257T>C | ENSP00000387111.1:n.-28+6257T>C | |
| ENST00000422537.6:c.700-465A>G (MITD1) | ENSP00000413371.2:n.700-465A>G | |
| ENST00000424491.5:c.63+12164T>C | ENSP00000390891.1:n.63+12164T>C | |
| ENST00000434566.5:c.726T>C (LIPT1) | ENSP00000393591.1:p.Asp242= | |
| ENST00000487588.5:n.241-1015A>G (MITD1) | ||
| NM_001204830.1:c.726T>C (LIPT1) | NP_001191759.1:p.Asp242= | |
| NM_015929.3:c.726T>C (LIPT1) | NP_057013.1:p.Asp242= | |
| NM_145197.2:c.726T>C (LIPT1) | NP_660198.1:p.Asp242= | |
| NM_145198.2:c.726T>C (LIPT1) | NP_660199.1:p.Asp242= | |
| NM_145199.2:c.726T>C (LIPT1) | NP_660200.1:p.Asp242= | |
| NR_037935.1:n.1211T>C (LIPT1) | ||
| NR_037936.1:n.887T>C (LIPT1) | ||
| XM_011510581.1:c.730-1015A>G (MITD1) | XP_011508883.1:n.730-1015A>G | |
| XM_011510582.1:c.*2-1015A>G (MITD1) | XP_011508884.1:n.*2-1015A>G | |
| XM_011510583.1:c.451-1015A>G (MITD1) | XP_011508885.1:n.451-1015A>G | |
| XM_011510581.3:c.730-1015A>G (MITD1) | XP_011508883.1:n.730-1015A>G | |
| XM_011510582.3:c.*2-1015A>G (MITD1) | XP_011508884.1:n.*2-1015A>G | |
| XM_017003314.2:c.643-1015A>G (MITD1) | XP_016858803.1:n.643-1015A>G | |
| XR_001738612.1:n.1032-1015A>G (MITD1) | ||
| NM_145199.3:c.726T>C (LIPT1) MANE Select | NP_660200.1:p.Asp242= | |
| NM_015929.4:c.726T>C (LIPT1) | NP_057013.1:p.Asp242= | |
| NM_145197.3:c.726T>C (LIPT1) | NP_660198.1:p.Asp242= | |
| NM_145198.3:c.726T>C (LIPT1) | NP_660199.1:p.Asp242= | |
| NR_037936.2:n.875T>C (LIPT1) | ||
| NM_001204830.2:c.726T>C (LIPT1) | NP_001191759.1:p.Asp242= | |
| NR_037935.2:n.1211T>C (LIPT1) |