Linked Data
ClinVar Variation Id:
338542
ClinVar RCV Id:
RCV000327371
dbSNP Id:
rs536094482
gnomAD v2:
20-44527355-T-A
gnomAD v3:
20-45898716-T-A
gnomAD v4:
20-45898716-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898716T>A , CM000682.2:g.45898716T>A | GRCh38 |
| NC_000020.10:g.44527355T>A , CM000682.1:g.44527355T>A | GRCh37 |
| NC_000020.9:g.43960762T>A | NCBI36 |
| NG_008291.1:g.12765T>A | |
| NG_012115.1:g.18432A>T | |
| NG_012115.2:g.18432A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.5846T>A (CTSA) | ||
| ENST00000484855.4:n.4464T>A (CTSA) | ||
| ENST00000493522.8:n.2076T>A (CTSA) | ||
| ENST00000606066.3:n.2200T>A (CTSA) | ||
| ENST00000606782.3:n.1830T>A (CTSA) | ||
| ENST00000607187.3:n.4633T>A (CTSA) | ||
| ENST00000607212.3:n.1920T>A (CTSA) | ||
| ENST00000607814.7:n.3460T>A (CTSA) | ||
| ENST00000677755.2:n.2129T>A (CTSA) | ||
| ENST00000678622.2:n.3000T>A (CTSA) | ||
| ENST00000678691.2:n.3957T>A (CTSA) | ||
| ENST00000678988.2:n.3087T>A (CTSA) | ||
| ENST00000679053.2:n.4831T>A (CTSA) | ||
| ENST00000679343.2:n.5170T>A (CTSA) | ||
| ENST00000684198.1:n.2324T>A (CTSA) | ||
| ENST00000372431.8:c.*225A>T (PLTP) MANE Select | ENSP00000361508.3:n.*225A>T | |
| ENST00000372459.7:c.*266T>A (CTSA) | ENSP00000361537.2:n.*266T>A | |
| ENST00000372484.8:c.*266T>A (CTSA) | ENSP00000361562.3:n.*266T>A | |
| ENST00000484855.3:n.4464T>A (CTSA) | ||
| ENST00000607212.2:n.1920T>A (CTSA) | ||
| ENST00000607482.6:c.*266T>A (CTSA) | ENSP00000475524.2:n.*266T>A | |
| ENST00000646241.3:c.*266T>A (CTSA) MANE Select | ENSP00000493613.2:n.*266T>A | |
| ENST00000676967.1:c.*1102T>A (CTSA) | ENSP00000502866.1:n.*1102T>A | |
| ENST00000677394.1:c.*266T>A (CTSA) | ENSP00000504790.1:n.*266T>A | |
| ENST00000677525.1:c.*1532T>A (CTSA) | ENSP00000504197.1:n.*1532T>A | |
| ENST00000677755.1:n.2129T>A (CTSA) | ||
| ENST00000678025.1:c.*1773T>A (CTSA) | ENSP00000503463.1:n.*1773T>A | |
| ENST00000678443.1:c.1619T>A (CTSA) | ENSP00000504006.1:n.1619T>A | |
| ENST00000678512.1:n.6527T>A (CTSA) | ||
| ENST00000678691.1:n.3418T>A (CTSA) | ||
| ENST00000678939.1:c.*1048T>A (CTSA) | ENSP00000503404.1:n.*1048T>A | |
| ENST00000678988.1:n.3087T>A (CTSA) | ||
| ENST00000679053.1:n.4459T>A (CTSA) | ||
| ENST00000679343.1:n.4791T>A (CTSA) | ||
| ENST00000191018.9:c.*266T>A (CTSA) | ENSP00000191018.5:n.*266T>A | |
| ENST00000354050.8:c.*225A>T (PLTP) | ENSP00000335290.4:n.*225A>T | |
| ENST00000354880.9:c.*266T>A (CTSA) | ENSP00000346952.4:n.*266T>A | |
| ENST00000372459.6:c.*266T>A (CTSA) | ENSP00000361537.2:n.*266T>A | |
| ENST00000372484.7:c.*266T>A (CTSA) | ENSP00000361562.3:n.*266T>A | |
| ENST00000484855.2:n.2079T>A (CTSA) | ||
| ENST00000606788.5:c.*1074T>A (CTSA) | ENSP00000476235.1:n.*1074T>A | |
| NM_000308.2:c.*266T>A (CTSA) | NP_000299.2:n.*266T>A | |
| NM_000308.3:c.*266T>A (CTSA) | NP_000299.2:n.*266T>A | |
| NM_001127695.1:c.*266T>A (CTSA) | NP_001121167.1:n.*266T>A | |
| NM_001127695.2:c.*266T>A (CTSA) | NP_001121167.1:n.*266T>A | |
| NM_001167594.1:c.*266T>A (CTSA) | NP_001161066.1:n.*266T>A | |
| NM_001167594.2:c.*266T>A (CTSA) | NP_001161066.1:n.*266T>A | |
| NM_001242920.1:c.*225A>T (PLTP) | NP_001229849.1:n.*225A>T | |
| NM_001242921.1:c.*225A>T (PLTP) | NP_001229850.1:n.*225A>T | |
| NM_006227.3:c.*225A>T (PLTP) | NP_006218.1:n.*225A>T | |
| NM_182676.2:c.*225A>T (PLTP) | NP_872617.1:n.*225A>T | |
| NR_133656.1:n.2952T>A (CTSA) | ||
| NM_006227.4:c.*225A>T (PLTP) MANE Select | NP_006218.1:n.*225A>T | |
| NM_000308.4:c.*266T>A (CTSA) MANE Select | NP_000299.3:n.*266T>A | |
| NM_001242920.2:c.*225A>T (PLTP) | NP_001229849.1:n.*225A>T | |
| NM_182676.3:c.*225A>T (PLTP) | NP_872617.1:n.*225A>T | |
| NM_001127695.3:c.*266T>A (CTSA) | NP_001121167.1:n.*266T>A | |
| NM_001167594.3:c.*266T>A (CTSA) | NP_001161066.2:n.*266T>A | |
| NR_133656.2:n.1761T>A (CTSA) |