Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648527C= , CM000663.2:g.20648527C= | GRCh38 |
| NC_000001.10:g.20975020C= , CM000663.1:g.20975020C= | GRCh37 |
| NC_000001.9:g.20847607C= | NCBI36 |
| NG_008164.1:g.20073C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1146C= (PINK1) MANE Select | ENSP00000364204.3:p.Ile382= | |
| ENST00000321556.4:c.1146C= (PINK1) | ENSP00000364204.3:p.Ile382= | |
| ENST00000400490.2:n.239C= (PINK1) | ||
| ENST00000492302.1:n.2234C= (PINK1) | ||
| NM_032409.2:c.1146C= (PINK1) | NP_115785.1:p.Ile382= | |
| NR_046507.1:n.3667G= (PINK1-AS) | ||
| NM_032409.3:c.1146C= (PINK1) MANE Select | NP_115785.1:p.Ile382= |