Linked Data
ClinVar Variation Id:
1375844
ClinVar RCV Id:
RCV001885585
dbSNP Id:
rs368847750
ExAC:
2:99778826 G / T
gnomAD v2:
2-99778826-G-T
gnomAD v3:
2-99162363-G-T
gnomAD v4:
2-99162363-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.99162363G>T , CM000664.2:g.99162363G>T | GRCh38 |
| NC_000002.11:g.99778826G>T , CM000664.1:g.99778826G>T | GRCh37 |
| NC_000002.10:g.99145258G>T | NCBI36 |
| NG_050665.1:g.12409G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651691.1:c.406G>T (LIPT1) MANE Select | ENSP00000498546.1:p.Ala136Ser | |
| ENST00000393471.2:c.406G>T (LIPT1) | ENSP00000377114.2:p.Ala136Ser | |
| ENST00000393473.6:c.406G>T (LIPT1) | ENSP00000377115.2:p.Ala136Ser | |
| ENST00000410042.1:c.-28+5937G>T | ENSP00000387111.1:n.-28+5937G>T | |
| ENST00000422537.6:c.700-145C>A (MITD1) | ENSP00000413371.2:n.700-145C>A | |
| ENST00000424491.5:c.63+11844G>T | ENSP00000390891.1:n.63+11844G>T | |
| ENST00000434566.5:c.406G>T (LIPT1) | ENSP00000393591.1:p.Ala136Ser | |
| ENST00000449211.1:c.406G>T (LIPT1) | ||
| ENST00000487588.5:n.241-695C>A (MITD1) | ||
| NM_001204830.1:c.406G>T (LIPT1) | NP_001191759.1:p.Ala136Ser | |
| NM_015929.3:c.406G>T (LIPT1) | NP_057013.1:p.Ala136Ser | |
| NM_145197.2:c.406G>T (LIPT1) | NP_660198.1:p.Ala136Ser | |
| NM_145198.2:c.406G>T (LIPT1) | NP_660199.1:p.Ala136Ser | |
| NM_145199.2:c.406G>T (LIPT1) | NP_660200.1:p.Ala136Ser | |
| NR_037935.1:n.891G>T (LIPT1) | ||
| NR_037936.1:n.567G>T (LIPT1) | ||
| XM_011510581.1:c.730-695C>A (MITD1) | XP_011508883.1:n.730-695C>A | |
| XM_011510582.1:c.*2-695C>A (MITD1) | XP_011508884.1:n.*2-695C>A | |
| XM_011510583.1:c.451-695C>A (MITD1) | XP_011508885.1:n.451-695C>A | |
| XM_011510581.3:c.730-695C>A (MITD1) | XP_011508883.1:n.730-695C>A | |
| XM_011510582.3:c.*2-695C>A (MITD1) | XP_011508884.1:n.*2-695C>A | |
| XM_017003314.2:c.643-695C>A (MITD1) | XP_016858803.1:n.643-695C>A | |
| XR_001738612.1:n.1032-695C>A (MITD1) | ||
| NM_145199.3:c.406G>T (LIPT1) MANE Select | NP_660200.1:p.Ala136Ser | |
| NM_015929.4:c.406G>T (LIPT1) | NP_057013.1:p.Ala136Ser | |
| NM_145197.3:c.406G>T (LIPT1) | NP_660198.1:p.Ala136Ser | |
| NM_145198.3:c.406G>T (LIPT1) | NP_660199.1:p.Ala136Ser | |
| NR_037936.2:n.555G>T (LIPT1) | ||
| NM_001204830.2:c.406G>T (LIPT1) | NP_001191759.1:p.Ala136Ser | |
| NR_037935.2:n.891G>T (LIPT1) |