Revel Score:
ENST00000486171
0.758
ENST00000311737 (MANE Select)
0.758
ENST00000529243
0.758
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.142750630T>C , CM000669.2:g.142750630T>C | GRCh38 |
| NC_000007.13:g.142458481T>C , CM000669.1:g.142458481T>C | GRCh37 |
| NC_000007.12:g.142138055T>C | NCBI36 |
| NG_008307.3:g.6147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311737.12:c.116T>C (PRSS1) MANE Select | ENSP00000308720.7:p.Val39Ala | |
| ENST00000311737.11:c.116T>C (PRSS1) | ENSP00000308720.7:p.Val39Ala | |
| ENST00000485223.1:n.55T>C (PRSS1) | ||
| ENST00000486171.5:c.116T>C (PRSS1) | ENSP00000417854.1:p.Val39Ala | |
| ENST00000497041.1:n.120T>C (PRSS1) | ||
| ENST00000610416.2:c.370+29444T>C (TRBC1) | ENSP00000482915.1:n.370+29444T>C | |
| ENST00000612126.4:c.116T>C (PRSS1) | ENSP00000479959.1:p.Val39Ala | |
| ENST00000619214.4:c.116T>C (PRSS1) | ENSP00000481361.1:p.Val39Ala | |
| ENST00000633114.1:c.116T>C (PRSS2) | ENSP00000487822.1:p.Val39Ala | |
| ENST00000634019.1:c.82+1839T>C (PRSS2) | ENSP00000488594.1:n.82+1839T>C | |
| NM_002769.4:c.116T>C (PRSS1) | NP_002760.1:p.Val39Ala | |
| XM_011516411.1:c.791T>C (PRSS1) | XP_011514713.1:p.Val264Ala | |
| NM_002769.5:c.116T>C (PRSS1) MANE Select | NP_002760.1:p.Val39Ala | |
| NR_172947.1:n.129T>C (PRSS1) | ||
| NR_172948.1:n.129T>C (PRSS1) | ||
| NR_172949.1:n.55T>C (PRSS1) | ||
| NR_172950.1:n.53+1106T>C (PRSS1) | ||
| NR_172951.1:n.55T>C (PRSS1) |