Linked Data
ClinVar Variation Id:
371215
ClinVar RCV Id:
RCV000410613
dbSNP Id:
rs1057517095
COSMIC:
COSM5847526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97193068C>T , CM000663.2:g.97193068C>T | GRCh38 |
| NC_000001.10:g.97658624C>T , CM000663.1:g.97658624C>T | GRCh37 |
| NC_000001.9:g.97431212C>T | NCBI36 |
| NG_008807.2:g.732992G>A , LRG_722:g.732992G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370192.8:c.2622+1G>A (DPYD) MANE Select | ENSP00000359211.3:n.2622+1G>A | |
| ENST00000370192.7:c.2622+1G>A (DPYD) | ENSP00000359211.3:n.2622+1G>A | |
| NM_000110.3:c.2622+1G>A , LRG_722t1:c.2622+1G>A (DPYD) | NP_000101.2:n.2622+1G>A | |
| NR_046590.1:n.65-72346C>T (DPYD-AS1) | ||
| XM_005270562.3:c.2406+1G>A (DPYD) | XP_005270619.2:n.2406+1G>A | |
| XM_006710397.2:c.2622+1G>A (DPYD) | XP_006710460.1:n.2622+1G>A | |
| XM_006710397.3:c.2622+1G>A (DPYD) | XP_006710460.1:n.2622+1G>A | |
| XM_017000507.1:c.2511+1G>A (DPYD) | XP_016855996.1:n.2511+1G>A | |
| XM_017000508.2:c.2127+1G>A (DPYD) | XP_016855997.1:n.2127+1G>A | |
| XM_017000509.2:c.2127+1G>A (DPYD) | XP_016855998.1:n.2127+1G>A | |
| XM_017000510.1:c.2127+1G>A (DPYD) | XP_016855999.1:n.2127+1G>A | |
| NM_000110.4:c.2622+1G>A (DPYD) MANE Select | NP_000101.2:n.2622+1G>A |