Canonical Allele Identifier: CA228097
Gene: DPYD HGNC NCBI
DPYD-AS1 HGNC NCBI
COSMIC:
COSM3751465 (not active)
MyVariant.info:
GRCh38 chr1:g.97305364C>T
GRCh37 chr1:g.97770920C>T
Revel Score:
ENST00000370192 (MANE Select) 0.297
gnomAD v2:
1:97770920 C / T
gnomAD v3:
1:97305364 C / T
gnomAD v4:
chr1-97305364-C-T
Joint Max Group AF 0.11705253 (MID)
Genomes Max Group AF 0.08589213 (SAS)
Exomes Max Group AF 0.11781026 (MID)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97305364C>T , CM000663.2:g.97305364C>T GRCh38
NC_000001.10:g.97770920C>T , CM000663.1:g.97770920C>T GRCh37
NC_000001.9:g.97543508C>T NCBI36
NG_008807.2:g.620696G>A , LRG_722:g.620696G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.2194G>A (DPYD) MANE Select ENSP00000359211.3:p.Val732Ile
ENST00000370192.7:c.2194G>A (DPYD) ENSP00000359211.3:p.Val732Ile
NM_000110.3:c.2194G>A , LRG_722t1:c.2194G>A (DPYD) NP_000101.2:p.Val732Ile
NR_046590.1:n.129-825C>T (DPYD-AS1)
XM_005270562.3:c.1978G>A (DPYD) XP_005270619.2:p.Val660Ile
XM_006710397.2:c.2194G>A (DPYD) XP_006710460.1:p.Val732Ile
XM_006710397.3:c.2194G>A (DPYD) XP_006710460.1:p.Val732Ile
XM_017000507.1:c.2083G>A (DPYD) XP_016855996.1:p.Val695Ile
XM_017000508.2:c.1699G>A (DPYD) XP_016855997.1:p.Val567Ile
XM_017000509.2:c.1699G>A (DPYD) XP_016855998.1:p.Val567Ile
XM_017000510.1:c.1699G>A (DPYD) XP_016855999.1:p.Val567Ile
NM_000110.4:c.2194G>A (DPYD) MANE Select NP_000101.2:p.Val732Ile
Search 100 bp 5'
Search 100 bp 3'