Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12709122G>C , CM000671.2:g.12709122G>C | GRCh38 |
| NC_000009.11:g.12709122G>C , CM000671.1:g.12709122G>C | GRCh37 |
| NC_000009.10:g.12699122G>C | NCBI36 |
| NG_011705.1:g.20737G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000550.3:c.1554G>C (TYRP1) MANE Select | NP_000541.1:p.Gln518His |
| ENST00000388918.10:c.1554G>C (TYRP1) MANE Select | ENSP00000373570.4:p.Gln518His |
| NM_000550.2:c.1554G>C (TYRP1) | NP_000541.1:p.Gln518His |
| NR_125775.1:n.317-8496C>G (LURAP1L-AS1) | |
| ENST00000381136.2:c.684G>C (TYRP1) | ENSP00000370528.2:p.Gln228His |
| ENST00000381142.3:n.644G>C (TYRP1) | |
| ENST00000388918.9:c.1554G>C (TYRP1) | ENSP00000373570.4:p.Gln518His |
| ENST00000473504.1:n.619G>C (TYRP1) | |
| XR_001746372.2:n.1538G>C (TYRP1) |