Linked Data
MyVariant Identifiers:
chr1:g.20972143G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20645650G>C , CM000663.2:g.20645650G>C | GRCh38 |
| NC_000001.10:g.20972143G>C , CM000663.1:g.20972143G>C | GRCh37 |
| NC_000001.9:g.20844730G>C | NCBI36 |
| NG_008164.1:g.17196G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000321556.5:c.1050G>C (PINK1) MANE Select | ENSP00000364204.3:p.Val350= | |
| ENST00000321556.4:c.1050G>C (PINK1) | ENSP00000364204.3:p.Val350= | |
| ENST00000400490.2:n.143G>C (PINK1) | ||
| ENST00000492302.1:n.2138G>C (PINK1) | ||
| NM_032409.2:c.1050G>C (PINK1) | NP_115785.1:p.Val350= | |
| NR_046507.1:n.3916C>G (PINK1-AS) | ||
| NM_032409.3:c.1050G>C (PINK1) MANE Select | NP_115785.1:p.Val350= |