Linked Data
dbSNP Id:
rs371313778
ExAC:
1:97700416 C / T
gnomAD v2:
1-97700416-C-T
gnomAD v3:
1-97234860-C-T
gnomAD v4:
1-97234860-C-T
COSMIC:
COSM1250677
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97234860C>T , CM000663.2:g.97234860C>T | GRCh38 |
| NC_000001.10:g.97700416C>T , CM000663.1:g.97700416C>T | GRCh37 |
| NC_000001.9:g.97473004C>T | NCBI36 |
| NG_008807.2:g.691200G>A , LRG_722:g.691200G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.2434G>A (DPYD) MANE Select | ENSP00000359211.3:p.Val812Ile | |
| ENST00000370192.7:c.2434G>A (DPYD) | ENSP00000359211.3:p.Val812Ile | |
| NM_000110.3:c.2434G>A , LRG_722t1:c.2434G>A (DPYD) | NP_000101.2:p.Val812Ile | |
| NR_046590.1:n.65-30554C>T (DPYD-AS1) | ||
| XM_005270562.3:c.2218G>A (DPYD) | XP_005270619.2:p.Val740Ile | |
| XM_006710397.2:c.2434G>A (DPYD) | XP_006710460.1:p.Val812Ile | |
| XM_006710397.3:c.2434G>A (DPYD) | XP_006710460.1:p.Val812Ile | |
| XM_017000507.1:c.2323G>A (DPYD) | XP_016855996.1:p.Val775Ile | |
| XM_017000508.2:c.1939G>A (DPYD) | XP_016855997.1:p.Val647Ile | |
| XM_017000509.2:c.1939G>A (DPYD) | XP_016855998.1:p.Val647Ile | |
| XM_017000510.1:c.1939G>A (DPYD) | XP_016855999.1:p.Val647Ile | |
| NM_000110.4:c.2434G>A (DPYD) MANE Select | NP_000101.2:p.Val812Ile |