Linked Data
ClinVar Variation Id:
2903508
ClinVar RCV Id:
RCV003726759
dbSNP Id:
rs1818287916
gnomAD v4:
9-12708027-CT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708028del , CM000671.2:g.12708028del | GRCh38 |
| NC_000009.11:g.12708028del , CM000671.1:g.12708028del | GRCh37 |
| NC_000009.10:g.12698028del | NCBI36 |
| NG_011705.1:g.19643del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1293del (TYRP1) MANE Select | ENSP00000373570.4:p.Ile432LeufsTer? | |
| ENST00000381136.2:c.423del (TYRP1) | ENSP00000370528.2:p.Ile142LeufsTer? | |
| ENST00000381142.3:n.499-949del (TYRP1) | ||
| ENST00000388918.9:c.1293del (TYRP1) | ENSP00000373570.4:p.Ile432LeufsTer? | |
| ENST00000473504.1:n.358del (TYRP1) | ||
| NM_000550.2:c.1293del (TYRP1) | NP_000541.1:p.Ile432LeufsTer? | |
| NR_125775.1:n.317-7402del (LURAP1L-AS1) | ||
| XR_001746372.2:n.1277del (TYRP1) | ||
| NM_000550.3:c.1293del (TYRP1) MANE Select | NP_000541.1:p.Ile432LeufsTer? |