Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708132T>C , CM000671.2:g.12708132T>C | GRCh38 |
| NC_000009.11:g.12708132T>C , CM000671.1:g.12708132T>C | GRCh37 |
| NC_000009.10:g.12698132T>C | NCBI36 |
| NG_011705.1:g.19747T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1397T>C (TYRP1) MANE Select | ENSP00000373570.4:p.Ile466Thr | |
| ENST00000381136.2:c.527T>C (TYRP1) | ENSP00000370528.2:p.Ile176Thr | |
| ENST00000381142.3:n.499-845T>C (TYRP1) | ||
| ENST00000388918.9:c.1397T>C (TYRP1) | ENSP00000373570.4:p.Ile466Thr | |
| ENST00000473504.1:n.462T>C (TYRP1) | ||
| NM_000550.2:c.1397T>C (TYRP1) | NP_000541.1:p.Ile466Thr | |
| NR_125775.1:n.317-7506A>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.1381T>C (TYRP1) | ||
| NM_000550.3:c.1397T>C (TYRP1) MANE Select | NP_000541.1:p.Ile466Thr |