Linked Data
ClinVar Variation Id:
2121145
ClinVar RCV Id:
RCV003049014
dbSNP Id:
rs778258169
ExAC:
9:12708126 A / G
gnomAD v2:
9-12708126-A-G
gnomAD v4:
9-12708126-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12708126A>G , CM000671.2:g.12708126A>G | GRCh38 |
| NC_000009.11:g.12708126A>G , CM000671.1:g.12708126A>G | GRCh37 |
| NC_000009.10:g.12698126A>G | NCBI36 |
| NG_011705.1:g.19741A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1391A>G (TYRP1) MANE Select | ENSP00000373570.4:p.Tyr464Cys | |
| ENST00000381136.2:c.521A>G (TYRP1) | ENSP00000370528.2:p.Tyr174Cys | |
| ENST00000381142.3:n.499-851A>G (TYRP1) | ||
| ENST00000388918.9:c.1391A>G (TYRP1) | ENSP00000373570.4:p.Tyr464Cys | |
| ENST00000473504.1:n.456A>G (TYRP1) | ||
| NM_000550.2:c.1391A>G (TYRP1) | NP_000541.1:p.Tyr464Cys | |
| NR_125775.1:n.317-7500T>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.1375A>G (TYRP1) | ||
| NM_000550.3:c.1391A>G (TYRP1) MANE Select | NP_000541.1:p.Tyr464Cys |