Revel Score:
ENST00000486171
0.452
ENST00000311737 (MANE Select)
0.452
ENST00000529243
0.452
ENST00000492062
0.452
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751971C>G , CM000669.2:g.142751971C>G | GRCh38 |
| NC_000007.13:g.142459822C>G , CM000669.1:g.142459822C>G | GRCh37 |
| NC_000007.12:g.142139396C>G | NCBI36 |
| NG_008307.3:g.7488C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.398C>G (PRSS1) MANE Select | ENSP00000308720.7:p.Pro133Arg | |
| ENST00000311737.11:c.398C>G (PRSS1) | ENSP00000308720.7:p.Pro133Arg | |
| ENST00000463701.1:n.862C>G (PRSS1) | ||
| ENST00000485223.1:n.1396C>G (PRSS1) | ||
| ENST00000486171.5:c.440C>G (PRSS1) | ENSP00000417854.1:p.Pro147Arg | |
| ENST00000492062.1:c.248C>G (PRSS1) | ENSP00000419912.1:p.Pro83Arg | |
| ENST00000610416.2:c.370+30785C>G (TRBC1) | ENSP00000482915.1:n.370+30785C>G | |
| ENST00000612126.4:c.398C>G (PRSS1) | ENSP00000479959.1:p.Pro133Arg | |
| ENST00000619214.4:c.368C>G (PRSS1) | ENSP00000481361.1:p.Pro123Arg | |
| ENST00000633114.1:c.321+77C>G (PRSS2) | ENSP00000487822.1:n.321+77C>G | |
| ENST00000634019.1:c.82+3180C>G (PRSS2) | ENSP00000488594.1:n.82+3180C>G | |
| NM_002769.4:c.398C>G (PRSS1) | NP_002760.1:p.Pro133Arg | |
| XM_011516411.1:c.1073C>G (PRSS1) | XP_011514713.1:p.Pro358Arg | |
| NM_002769.5:c.398C>G (PRSS1) MANE Select | NP_002760.1:p.Pro133Arg | |
| NR_172947.1:n.340C>G (PRSS1) | ||
| NR_172948.1:n.337C>G (PRSS1) | ||
| NR_172949.1:n.337C>G (PRSS1) | ||
| NR_172950.1:n.251C>G (PRSS1) | ||
| NR_172951.1:n.185C>G (PRSS1) |