Canonical Allele Identifier: CA341374597
Gene: DPYD HGNC NCBI
DPYD-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2587443
ClinVar RCV Id: RCV003344142
dbSNP Id: rs1365638731
gnomAD v3: 1-97234959-T-C
gnomAD v4: 1-97234959-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97234959T>C , CM000663.2:g.97234959T>C GRCh38
NC_000001.10:g.97700515T>C , CM000663.1:g.97700515T>C GRCh37
NC_000001.9:g.97473103T>C NCBI36
NG_008807.2:g.691101A>G , LRG_722:g.691101A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370192.8:c.2335A>G (DPYD) MANE Select ENSP00000359211.3:p.Thr779Ala
ENST00000370192.7:c.2335A>G (DPYD) ENSP00000359211.3:p.Thr779Ala
NM_000110.3:c.2335A>G , LRG_722t1:c.2335A>G (DPYD) NP_000101.2:p.Thr779Ala
NR_046590.1:n.65-30455T>C (DPYD-AS1)
XM_005270562.3:c.2119A>G (DPYD) XP_005270619.2:p.Thr707Ala
XM_006710397.2:c.2335A>G (DPYD) XP_006710460.1:p.Thr779Ala
XM_006710397.3:c.2335A>G (DPYD) XP_006710460.1:p.Thr779Ala
XM_017000507.1:c.2224A>G (DPYD) XP_016855996.1:p.Thr742Ala
XM_017000508.2:c.1840A>G (DPYD) XP_016855997.1:p.Thr614Ala
XM_017000509.2:c.1840A>G (DPYD) XP_016855998.1:p.Thr614Ala
XM_017000510.1:c.1840A>G (DPYD) XP_016855999.1:p.Thr614Ala
NM_000110.4:c.2335A>G (DPYD) MANE Select NP_000101.2:p.Thr779Ala