Linked Data
ClinVar Variation Id:
2568896
ClinVar RCV Id:
RCV004331768
dbSNP Id:
rs761297504
ExAC:
8:72948559 T / G
gnomAD v2:
8-72948559-T-G
gnomAD v3:
8-72036324-T-G
gnomAD v4:
8-72036324-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72036324T>G , CM000670.2:g.72036324T>G | GRCh38 |
| NC_000008.10:g.72948559T>G , CM000670.1:g.72948559T>G | GRCh37 |
| NC_000008.9:g.73111113T>G | NCBI36 |
| NG_033890.1:g.44261A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262209.5:c.2519A>C (TRPA1) MANE Select | ENSP00000262209.4:p.Tyr840Ser | |
| ENST00000262209.4:c.2519A>C (TRPA1) | ENSP00000262209.4:p.Tyr840Ser | |
| ENST00000519720.5:n.615A>C (TRPA1) | ||
| ENST00000523582.5:c.2075A>C (TRPA1) | ENSP00000428151.1:p.Tyr692Ser | |
| NM_007332.2:c.2519A>C (TRPA1) | NP_015628.2:p.Tyr840Ser | |
| NR_033651.1:n.434-16215T>G (MSC-AS1) | ||
| NR_033652.1:n.1029-16215T>G (MSC-AS1) | ||
| XM_011517624.1:c.2594A>C (TRPA1) | XP_011515926.1:p.Tyr865Ser | |
| XM_011517625.1:c.2519A>C (TRPA1) | XP_011515927.1:p.Tyr840Ser | |
| XM_011517624.2:c.2594A>C (TRPA1) | XP_011515926.1:p.Tyr865Ser | |
| XM_011517625.2:c.2519A>C (TRPA1) | XP_011515927.1:p.Tyr840Ser | |
| XM_017013946.1:c.2519A>C (TRPA1) | XP_016869435.1:p.Tyr840Ser | |
| NM_007332.3:c.2519A>C (TRPA1) MANE Select | NP_015628.2:p.Tyr840Ser |