Linked Data
ClinVar Variation Id:
338543
ClinVar RCV Id:
RCV000384242
dbSNP Id:
rs568876316
gnomAD v2:
20-44527409-G-A
gnomAD v3:
20-45898770-G-A
gnomAD v4:
20-45898770-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45898770G>A , CM000682.2:g.45898770G>A | GRCh38 |
| NC_000020.10:g.44527409G>A , CM000682.1:g.44527409G>A | GRCh37 |
| NC_000020.9:g.43960816G>A | NCBI36 |
| NG_008291.1:g.12819G>A | |
| NG_012115.1:g.18378C>T | |
| NG_012115.2:g.18378C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480961.3:n.5900G>A (CTSA) | ||
| ENST00000484855.4:n.4518G>A (CTSA) | ||
| ENST00000493522.8:n.2130G>A (CTSA) | ||
| ENST00000606066.3:n.2254G>A (CTSA) | ||
| ENST00000606782.3:n.1884G>A (CTSA) | ||
| ENST00000607187.3:n.4687G>A (CTSA) | ||
| ENST00000607212.3:n.1974G>A (CTSA) | ||
| ENST00000607814.7:n.3514G>A (CTSA) | ||
| ENST00000677755.2:n.2183G>A (CTSA) | ||
| ENST00000678622.2:n.3054G>A (CTSA) | ||
| ENST00000678691.2:n.4011G>A (CTSA) | ||
| ENST00000678988.2:n.3141G>A (CTSA) | ||
| ENST00000679053.2:n.4885G>A (CTSA) | ||
| ENST00000679343.2:n.5224G>A (CTSA) | ||
| ENST00000684198.1:n.2378G>A (CTSA) | ||
| ENST00000372431.8:c.*171C>T (PLTP) MANE Select | ENSP00000361508.3:n.*171C>T | |
| ENST00000372459.7:c.*320G>A (CTSA) | ENSP00000361537.2:n.*320G>A | |
| ENST00000372484.8:c.*320G>A (CTSA) | ENSP00000361562.3:n.*320G>A | |
| ENST00000484855.3:n.4518G>A (CTSA) | ||
| ENST00000607212.2:n.1974G>A (CTSA) | ||
| ENST00000607482.6:c.*320G>A (CTSA) | ENSP00000475524.2:n.*320G>A | |
| ENST00000646241.3:c.*320G>A (CTSA) MANE Select | ENSP00000493613.2:n.*320G>A | |
| ENST00000676967.1:c.*1156G>A (CTSA) | ENSP00000502866.1:n.*1156G>A | |
| ENST00000677394.1:c.*320G>A (CTSA) | ENSP00000504790.1:n.*320G>A | |
| ENST00000677525.1:c.*1586G>A (CTSA) | ENSP00000504197.1:n.*1586G>A | |
| ENST00000677755.1:n.2183G>A (CTSA) | ||
| ENST00000678025.1:c.*1827G>A (CTSA) | ENSP00000503463.1:n.*1827G>A | |
| ENST00000678443.1:c.1673G>A (CTSA) | ENSP00000504006.1:n.1673G>A | |
| ENST00000678512.1:n.6581G>A (CTSA) | ||
| ENST00000678691.1:n.3472G>A (CTSA) | ||
| ENST00000678939.1:c.*1102G>A (CTSA) | ENSP00000503404.1:n.*1102G>A | |
| ENST00000678988.1:n.3141G>A (CTSA) | ||
| ENST00000679053.1:n.4513G>A (CTSA) | ||
| ENST00000679343.1:n.4845G>A (CTSA) | ||
| ENST00000191018.9:c.*320G>A (CTSA) | ENSP00000191018.5:n.*320G>A | |
| ENST00000354050.8:c.*171C>T (PLTP) | ENSP00000335290.4:n.*171C>T | |
| ENST00000354880.9:c.*320G>A (CTSA) | ENSP00000346952.4:n.*320G>A | |
| ENST00000372420.5:c.*171C>T (PLTP) | ENSP00000361497.1:n.*171C>T | |
| ENST00000372431.7:c.*171C>T (PLTP) | ENSP00000361508.3:n.*171C>T | |
| ENST00000372459.6:c.*320G>A (CTSA) | ENSP00000361537.2:n.*320G>A | |
| ENST00000372484.7:c.*320G>A (CTSA) | ENSP00000361562.3:n.*320G>A | |
| ENST00000477313.5:c.*171C>T (PLTP) | ENSP00000417138.1:n.*171C>T | |
| ENST00000484855.2:n.2133G>A (CTSA) | ||
| ENST00000606788.5:c.*1128G>A (CTSA) | ENSP00000476235.1:n.*1128G>A | |
| NM_000308.2:c.*320G>A (CTSA) | NP_000299.2:n.*320G>A | |
| NM_000308.3:c.*320G>A (CTSA) | NP_000299.2:n.*320G>A | |
| NM_001127695.1:c.*320G>A (CTSA) | NP_001121167.1:n.*320G>A | |
| NM_001127695.2:c.*320G>A (CTSA) | NP_001121167.1:n.*320G>A | |
| NM_001167594.1:c.*320G>A (CTSA) | NP_001161066.1:n.*320G>A | |
| NM_001167594.2:c.*320G>A (CTSA) | NP_001161066.1:n.*320G>A | |
| NM_001242920.1:c.*171C>T (PLTP) | NP_001229849.1:n.*171C>T | |
| NM_001242921.1:c.*171C>T (PLTP) | NP_001229850.1:n.*171C>T | |
| NM_006227.3:c.*171C>T (PLTP) | NP_006218.1:n.*171C>T | |
| NM_182676.2:c.*171C>T (PLTP) | NP_872617.1:n.*171C>T | |
| NR_133656.1:n.3006G>A (CTSA) | ||
| NM_006227.4:c.*171C>T (PLTP) MANE Select | NP_006218.1:n.*171C>T | |
| NM_000308.4:c.*320G>A (CTSA) MANE Select | NP_000299.3:n.*320G>A | |
| NM_001242920.2:c.*171C>T (PLTP) | NP_001229849.1:n.*171C>T | |
| NM_182676.3:c.*171C>T (PLTP) | NP_872617.1:n.*171C>T | |
| NM_001127695.3:c.*320G>A (CTSA) | NP_001121167.1:n.*320G>A | |
| NM_001167594.3:c.*320G>A (CTSA) | NP_001161066.2:n.*320G>A | |
| NR_133656.2:n.1815G>A (CTSA) |