Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645640T= , CM000663.2:g.20645640T= | GRCh38 |
| NC_000001.10:g.20972133T= , CM000663.1:g.20972133T= | GRCh37 |
| NC_000001.9:g.20844720T= | NCBI36 |
| NG_008164.1:g.17186T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032409.3:c.1040T= (PINK1) MANE Select | NP_115785.1:p.Leu347= |
| ENST00000321556.5:c.1040T= (PINK1) MANE Select | ENSP00000364204.3:p.Leu347= |
| NM_032409.2:c.1040T= (PINK1) | NP_115785.1:p.Leu347= |
| NR_046507.1:n.3926A= (PINK1-AS) | |
| ENST00000321556.4:c.1040T= (PINK1) | ENSP00000364204.3:p.Leu347= |
| ENST00000400490.2:n.133T= (PINK1) | |
| ENST00000492302.1:n.2128T= (PINK1) |