Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12704547dup , CM000671.2:g.12704547dup | GRCh38 |
| NC_000009.11:g.12704547dup , CM000671.1:g.12704547dup | GRCh37 |
| NC_000009.10:g.12694547dup | NCBI36 |
| NG_011705.1:g.16162dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000550.3:c.1103dup (TYRP1) MANE Select | NP_000541.1:p.Tyr369ValfsTer2 |
| ENST00000388918.10:c.1103dup (TYRP1) MANE Select | ENSP00000373570.4:p.Tyr369ValfsTer2 |
| NM_000550.2:c.1103dup (TYRP1) | NP_000541.1:p.Tyr369ValfsTer2 |
| NR_125775.1:n.317-3919dup (LURAP1L-AS1) | |
| ENST00000381136.2:c.233dup (TYRP1) | ENSP00000370528.2:p.Tyr79ValfsTer2 |
| ENST00000381142.3:n.340dup (TYRP1) | |
| ENST00000388918.9:c.1103dup (TYRP1) | ENSP00000373570.4:p.Tyr369ValfsTer2 |
| XR_001746372.2:n.1087dup (TYRP1) |