Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20650447G>A , CM000663.2:g.20650447G>A | GRCh38 |
| NC_000001.10:g.20976940G>A , CM000663.1:g.20976940G>A | GRCh37 |
| NC_000001.9:g.20849527G>A | NCBI36 |
| NG_008164.1:g.21993G>A | |
| NG_032064.1:g.16098C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1502G>A (PINK1) MANE Select | ENSP00000364204.3:p.Arg501Gln | |
| ENST00000321556.4:c.1502G>A (PINK1) | ENSP00000364204.3:p.Arg501Gln | |
| ENST00000400490.2:n.595G>A (PINK1) | ||
| ENST00000492302.1:n.2952G>A (PINK1) | ||
| NM_032409.2:c.1502G>A (PINK1) | NP_115785.1:p.Arg501Gln | |
| NR_046507.1:n.1747C>T (PINK1-AS) | ||
| NM_032409.3:c.1502G>A (PINK1) MANE Select | NP_115785.1:p.Arg501Gln |