Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20651040G>C , CM000663.2:g.20651040G>C | GRCh38 |
| NC_000001.10:g.20977533G>C , CM000663.1:g.20977533G>C | GRCh37 |
| NC_000001.9:g.20850120G>C | NCBI36 |
| NG_008164.1:g.22586G>C | |
| NG_032064.1:g.15505C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.*349G>C (PINK1) MANE Select | ENSP00000364204.3:n.*349G>C | |
| ENST00000321556.4:c.*349G>C (PINK1) | ENSP00000364204.3:n.*349G>C | |
| ENST00000400490.2:n.1188G>C (PINK1) | ||
| ENST00000492302.1:n.3545G>C (PINK1) | ||
| NM_032409.2:c.*349G>C (PINK1) | NP_115785.1:n.*349G>C | |
| NR_046507.1:n.1154C>G (PINK1-AS) | ||
| NM_032409.3:c.*349G>C (PINK1) MANE Select | NP_115785.1:n.*349G>C |