Linked Data
dbSNP Id:
rs1301055871
gnomAD v2:
1-20975004-G-GC
gnomAD v3:
1-20648511-G-GC
gnomAD v4:
1-20648511-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20648515dup , CM000663.2:g.20648515dup | GRCh38 |
| NC_000001.10:g.20975008dup , CM000663.1:g.20975008dup | GRCh37 |
| NC_000001.9:g.20847595dup | NCBI36 |
| NG_008164.1:g.20061dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.1134dup (PINK1) MANE Select | ENSP00000364204.3:p.Trp379LeufsTer13 | |
| ENST00000321556.4:c.1134dup (PINK1) | ENSP00000364204.3:p.Trp379LeufsTer13 | |
| ENST00000400490.2:n.227dup (PINK1) | ||
| ENST00000492302.1:n.2222dup (PINK1) | ||
| NM_032409.2:c.1134dup (PINK1) | NP_115785.1:p.Trp379LeufsTer13 | |
| NR_046507.1:n.3682dup (PINK1-AS) | ||
| NM_032409.3:c.1134dup (PINK1) MANE Select | NP_115785.1:p.Trp379LeufsTer13 |