Linked Data
ClinVar Variation Id:
2262584
ClinVar RCV Id:
RCV004118108
dbSNP Id:
rs139821338
ExAC:
8:72966070 G / A
gnomAD v2:
8-72966070-G-A
gnomAD v3:
8-72053835-G-A
gnomAD v4:
8-72053835-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72053835G>A , CM000670.2:g.72053835G>A | GRCh38 |
| NC_000008.10:g.72966070G>A , CM000670.1:g.72966070G>A | GRCh37 |
| NC_000008.9:g.73128624G>A | NCBI36 |
| NG_033890.1:g.26750C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262209.5:c.1562C>T (TRPA1) MANE Select | ENSP00000262209.4:p.Ala521Val | |
| ENST00000262209.4:c.1562C>T (TRPA1) | ENSP00000262209.4:p.Ala521Val | |
| ENST00000520788.1:n.137C>T (TRPA1) | ||
| ENST00000523582.5:c.1118C>T (TRPA1) | ENSP00000428151.1:p.Ala373Val | |
| NM_007332.2:c.1562C>T (TRPA1) | NP_015628.2:p.Ala521Val | |
| NR_033651.1:n.1730G>A (MSC-AS1) | ||
| NR_033652.1:n.2325G>A (MSC-AS1) | ||
| XM_011517624.1:c.1637C>T (TRPA1) | XP_011515926.1:p.Ala546Val | |
| XM_011517625.1:c.1562C>T (TRPA1) | XP_011515927.1:p.Ala521Val | |
| XM_011517624.2:c.1637C>T (TRPA1) | XP_011515926.1:p.Ala546Val | |
| XM_011517625.2:c.1562C>T (TRPA1) | XP_011515927.1:p.Ala521Val | |
| XM_017013946.1:c.1562C>T (TRPA1) | XP_016869435.1:p.Ala521Val | |
| NM_007332.3:c.1562C>T (TRPA1) MANE Select | NP_015628.2:p.Ala521Val |