Revel Score:
ENST00000451779
0.174
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88734501C>A , CM000678.2:g.88734501C>A | GRCh38 |
| NC_000016.9:g.88800909C>A , CM000678.1:g.88800909C>A | GRCh37 |
| NC_000016.8:g.87328410C>A | NCBI36 |
| NG_042229.1:g.55720G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.2035G>T (PIEZO1) MANE Select | ENSP00000301015.9:p.Glu679Ter | |
| ENST00000301015.13:c.2035G>T (PIEZO1) | ENSP00000301015.9:p.Glu679Ter | |
| NM_001142864.2:c.2035G>T (PIEZO1) | NP_001136336.2:p.Glu679Ter | |
| NM_001142864.3:c.2035G>T (PIEZO1) | NP_001136336.2:p.Glu679Ter | |
| NR_103774.1:n.269+3053C>A (HSALR1) | ||
| NM_001142864.4:c.2035G>T (PIEZO1) MANE Select | NP_001136336.2:p.Glu679Ter |