Revel Score:
ENST00000486171
0.332
ENST00000311737 (MANE Select)
0.332
ENST00000529243
0.332
ENST00000492062
0.332
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004376 (AFR)
Exomes Max Group AF
0.00007712 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142751919C>A , CM000669.2:g.142751919C>A | GRCh38 |
| NC_000007.13:g.142459770C>A , CM000669.1:g.142459770C>A | GRCh37 |
| NC_000007.12:g.142139344C>A | NCBI36 |
| NG_008307.3:g.7436C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.346C>A (PRSS1) MANE Select | ENSP00000308720.7:p.Arg116Ser | |
| ENST00000311737.11:c.346C>A (PRSS1) | ENSP00000308720.7:p.Arg116Ser | |
| ENST00000463701.1:n.810C>A (PRSS1) | ||
| ENST00000485223.1:n.1344C>A (PRSS1) | ||
| ENST00000486171.5:c.388C>A (PRSS1) | ENSP00000417854.1:p.Arg130Ser | |
| ENST00000492062.1:c.196C>A (PRSS1) | ENSP00000419912.1:p.Arg66Ser | |
| ENST00000610416.2:c.370+30733C>A (TRBC1) | ENSP00000482915.1:n.370+30733C>A | |
| ENST00000612126.4:c.346C>A (PRSS1) | ENSP00000479959.1:p.Arg116Ser | |
| ENST00000619214.4:c.316C>A (PRSS1) | ENSP00000481361.1:p.Arg106Ser | |
| ENST00000633114.1:c.321+25C>A (PRSS2) | ENSP00000487822.1:n.321+25C>A | |
| ENST00000634019.1:c.82+3128C>A (PRSS2) | ENSP00000488594.1:n.82+3128C>A | |
| NM_002769.4:c.346C>A (PRSS1) | NP_002760.1:p.Arg116Ser | |
| XM_011516411.1:c.1021C>A (PRSS1) | XP_011514713.1:p.Arg341Ser | |
| NM_002769.5:c.346C>A (PRSS1) MANE Select | NP_002760.1:p.Arg116Ser | |
| NR_172947.1:n.288C>A (PRSS1) | ||
| NR_172948.1:n.285C>A (PRSS1) | ||
| NR_172949.1:n.285C>A (PRSS1) | ||
| NR_172950.1:n.199C>A (PRSS1) | ||
| NR_172951.1:n.140-7C>A (PRSS1) |