Linked Data
dbSNP Id:
rs1160228756
gnomAD v2:
1-97700509-T-C
gnomAD v3:
1-97234953-T-C
gnomAD v4:
1-97234953-T-C
COSMIC:
COSM5689942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97234953T>C , CM000663.2:g.97234953T>C | GRCh38 |
| NC_000001.10:g.97700509T>C , CM000663.1:g.97700509T>C | GRCh37 |
| NC_000001.9:g.97473097T>C | NCBI36 |
| NG_008807.2:g.691107A>G , LRG_722:g.691107A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2341A>G (DPYD) MANE Select | ENSP00000359211.3:p.Ile781Val | |
| ENST00000370192.7:c.2341A>G (DPYD) | ENSP00000359211.3:p.Ile781Val | |
| NM_000110.3:c.2341A>G , LRG_722t1:c.2341A>G (DPYD) | NP_000101.2:p.Ile781Val | |
| NR_046590.1:n.65-30461T>C (DPYD-AS1) | ||
| XM_005270562.3:c.2125A>G (DPYD) | XP_005270619.2:p.Ile709Val | |
| XM_006710397.2:c.2341A>G (DPYD) | XP_006710460.1:p.Ile781Val | |
| XM_006710397.3:c.2341A>G (DPYD) | XP_006710460.1:p.Ile781Val | |
| XM_017000507.1:c.2230A>G (DPYD) | XP_016855996.1:p.Ile744Val | |
| XM_017000508.2:c.1846A>G (DPYD) | XP_016855997.1:p.Ile616Val | |
| XM_017000509.2:c.1846A>G (DPYD) | XP_016855998.1:p.Ile616Val | |
| XM_017000510.1:c.1846A>G (DPYD) | XP_016855999.1:p.Ile616Val | |
| NM_000110.4:c.2341A>G (DPYD) MANE Select | NP_000101.2:p.Ile781Val |