Linked Data
ClinVar Variation Id:
2702870
ClinVar RCV Id:
RCV003577568
MyVariant Identifiers:
chr9:g.12702392T>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.12702392T>G , CM000671.2:g.12702392T>G | GRCh38 |
| NC_000009.11:g.12702392T>G , CM000671.1:g.12702392T>G | GRCh37 |
| NC_000009.10:g.12692392T>G | NCBI36 |
| NG_011705.1:g.14007T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388918.10:c.1035T>G (TYRP1) MANE Select | ENSP00000373570.4:p.Pro345= | |
| ENST00000381136.2:c.165T>G (TYRP1) | ENSP00000370528.2:p.Pro55= | |
| ENST00000381142.3:n.272T>G (TYRP1) | ||
| ENST00000388918.9:c.1035T>G (TYRP1) | ENSP00000373570.4:p.Pro345= | |
| ENST00000470909.1:n.293T>G (TYRP1) | ||
| NM_000550.2:c.1035T>G (TYRP1) | NP_000541.1:p.Pro345= | |
| NR_125775.1:n.317-1766A>C (LURAP1L-AS1) | ||
| XR_001746372.2:n.1019T>G (TYRP1) | ||
| NM_000550.3:c.1035T>G (TYRP1) MANE Select | NP_000541.1:p.Pro345= |