Linked Data
dbSNP Id:
rs11790991
gnomAD v2:
9-94873324-A-G
gnomAD v3:
9-92111042-A-G
gnomAD v4:
9-92111042-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.92111042A>G , CM000671.2:g.92111042A>G | GRCh38 |
| NC_000009.11:g.94873324A>G , CM000671.1:g.94873324A>G | GRCh37 |
| NC_000009.10:g.93913145A>G | NCBI36 |
| NG_007950.1:g.9367T>C , LRG_272:g.9367T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000461132.2:c.165+1413T>C (SPTLC1) | ENSP00000509096.1:n.165+1413T>C | |
| ENST00000482632.6:n.575+1413T>C (SPTLC1) | ||
| ENST00000488921.6:c.*181+1413T>C (SPTLC1) | ENSP00000510034.1:n.*181+1413T>C | |
| ENST00000686600.1:c.165+1413T>C (SPTLC1) | ENSP00000509268.1:n.165+1413T>C | |
| ENST00000686799.1:n.262+1413T>C (SPTLC1) | ||
| ENST00000687427.1:c.165+1413T>C (SPTLC1) | ENSP00000509426.1:n.165+1413T>C | |
| ENST00000687817.1:c.165+1413T>C (SPTLC1) | ENSP00000508926.1:n.165+1413T>C | |
| ENST00000687972.1:c.165+1413T>C (SPTLC1) | ENSP00000509208.1:n.165+1413T>C | |
| ENST00000689401.1:c.*181+1413T>C (SPTLC1) | ENSP00000510251.1:n.*181+1413T>C | |
| ENST00000689423.1:c.*181+1413T>C (SPTLC1) | ENSP00000508519.1:n.*181+1413T>C | |
| ENST00000690139.1:c.165+1413T>C (SPTLC1) | ENSP00000510483.1:n.165+1413T>C | |
| ENST00000692363.1:c.165+1413T>C (SPTLC1) | ENSP00000509481.1:n.165+1413T>C | |
| ENST00000692458.1:n.188+1413T>C (SPTLC1) | ||
| ENST00000693147.1:c.*181+1413T>C (SPTLC1) | ENSP00000510358.1:n.*181+1413T>C | |
| ENST00000262554.7:c.165+1413T>C (SPTLC1) MANE Select | ENSP00000262554.2:n.165+1413T>C | |
| ENST00000644140.1:c.165+1413T>C (SPTLC1) | ENSP00000493933.1:n.165+1413T>C | |
| ENST00000646534.1:c.165+1413T>C (SPTLC1) | ENSP00000495388.1:n.165+1413T>C | |
| ENST00000262554.6:c.165+1413T>C (SPTLC1) | ENSP00000262554.2:n.165+1413T>C | |
| ENST00000337841.4:c.165+1413T>C (SPTLC1) | ENSP00000337635.4:n.165+1413T>C | |
| ENST00000437913.1:n.178A>G (MTND4P15) | ||
| ENST00000461132.1:n.133+1413T>C (SPTLC1) | ||
| ENST00000482632.5:n.179+1413T>C (SPTLC1) | ||
| ENST00000488921.5:n.322+1413T>C (SPTLC1) | ||
| NM_001281303.1:c.165+1413T>C (SPTLC1) | NP_001268232.1:n.165+1413T>C | |
| NM_006415.3:c.165+1413T>C (SPTLC1) | NP_006406.1:n.165+1413T>C | |
| NM_178324.2:c.165+1413T>C (SPTLC1) | NP_847894.1:n.165+1413T>C | |
| XM_011518138.1:c.165+1413T>C (SPTLC1) | XP_011516440.1:n.165+1413T>C | |
| XM_011518139.1:c.-301+1413T>C (SPTLC1) | XP_011516441.1:n.-301+1413T>C | |
| XM_011518138.2:c.165+1413T>C (SPTLC1) | XP_011516440.1:n.165+1413T>C | |
| XM_011518139.3:c.-301+1413T>C (SPTLC1) | XP_011516441.1:n.-301+1413T>C | |
| XM_017014200.2:c.-335+1413T>C (SPTLC1) | XP_016869689.1:n.-335+1413T>C | |
| XM_017014201.2:c.-335+1413T>C (SPTLC1) | XP_016869690.1:n.-335+1413T>C | |
| XR_002956744.1:n.182+1413T>C (SPTLC1) | ||
| NM_006415.4:c.165+1413T>C (SPTLC1) MANE Select | NP_006406.1:n.165+1413T>C | |
| NM_001281303.2:c.165+1413T>C (SPTLC1) | NP_001268232.1:n.165+1413T>C | |
| NM_001368272.1:c.-335+1413T>C (SPTLC1) | NP_001355201.1:n.-335+1413T>C | |
| NM_001368273.1:c.-301+1413T>C (SPTLC1) | NP_001355202.1:n.-301+1413T>C | |
| NM_178324.3:c.165+1413T>C (SPTLC1) | NP_847894.1:n.165+1413T>C |