Linked Data
ClinVar Variation Id:
223132
ClinVar RCV Id:
RCV000208762
dbSNP Id:
rs869025600
gnomAD v4:
16-88735134-C-T
PubMed:
PMID:26333996
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88735134C>T , CM000678.2:g.88735134C>T | GRCh38 |
| NC_000016.9:g.88801542C>T , CM000678.1:g.88801542C>T | GRCh37 |
| NC_000016.8:g.87329043C>T | NCBI36 |
| NG_042229.1:g.55087G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000301015.14:c.1669+1G>A (PIEZO1) MANE Select | ENSP00000301015.9:n.1669+1G>A | |
| ENST00000301015.13:c.1669+1G>A (PIEZO1) | ENSP00000301015.9:n.1669+1G>A | |
| NM_001142864.2:c.1669+1G>A (PIEZO1) | NP_001136336.2:n.1669+1G>A | |
| NM_001142864.3:c.1669+1G>A (PIEZO1) | NP_001136336.2:n.1669+1G>A | |
| NR_103774.1:n.270-2687C>T (HSALR1) | ||
| NM_001142864.4:c.1669+1G>A (PIEZO1) MANE Select | NP_001136336.2:n.1669+1G>A |