Revel Score:
ENST00000321556 (MANE Select)
0.770
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20644526C>G , CM000663.2:g.20644526C>G | GRCh38 |
| NC_000001.10:g.20971019C>G , CM000663.1:g.20971019C>G | GRCh37 |
| NC_000001.9:g.20843606C>G | NCBI36 |
| NG_008164.1:g.16072C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.813C>G (PINK1) MANE Select | ENSP00000364204.3:p.His271Gln | |
| ENST00000321556.4:c.813C>G (PINK1) | ENSP00000364204.3:p.His271Gln | |
| ENST00000492302.1:n.1901C>G (PINK1) | ||
| NM_032409.2:c.813C>G (PINK1) | NP_115785.1:p.His271Gln | |
| NR_046507.1:n.3981+1059G>C (PINK1-AS) | ||
| NM_032409.3:c.813C>G (PINK1) MANE Select | NP_115785.1:p.His271Gln |