Linked Data
ClinVar Variation Id:
1480522
ClinVar RCV Id:
RCV001993957
dbSNP Id:
rs376501901
ExAC:
9:12702303 G / C
gnomAD v2:
9-12702303-G-C
gnomAD v3:
9-12702303-G-C
gnomAD v4:
9-12702303-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702303G>C , CM000671.2:g.12702303G>C | GRCh38 |
| NC_000009.11:g.12702303G>C , CM000671.1:g.12702303G>C | GRCh37 |
| NC_000009.10:g.12692303G>C | NCBI36 |
| NG_011705.1:g.13918G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.946G>C (TYRP1) MANE Select | ENSP00000373570.4:p.Ala316Pro | |
| ENST00000381136.2:c.76G>C (TYRP1) | ENSP00000370528.2:p.Ala26Pro | |
| ENST00000381142.3:n.183G>C (TYRP1) | ||
| ENST00000388918.9:c.946G>C (TYRP1) | ENSP00000373570.4:p.Ala316Pro | |
| ENST00000470909.1:n.204G>C (TYRP1) | ||
| NM_000550.2:c.946G>C (TYRP1) | NP_000541.1:p.Ala316Pro | |
| NR_125775.1:n.317-1677C>G (LURAP1L-AS1) | ||
| XR_001746372.2:n.930G>C (TYRP1) | ||
| NM_000550.3:c.946G>C (TYRP1) MANE Select | NP_000541.1:p.Ala316Pro |