Canonical Allele Identifier: CA228168
Gene: DPYD HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97699535T>C , CM000663.2:g.97699535T>C GRCh38
NC_000001.10:g.98165091T>C , CM000663.1:g.98165091T>C GRCh37
NC_000001.9:g.97937679T>C NCBI36
NG_008807.2:g.226525A>G , LRG_722:g.226525A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.496A>G MANE Select ENSP00000359211.3:p.Met166Val
ENST00000370192.7:c.496A>G ENSP00000359211.3:p.Met166Val
ENST00000474241.1:n.260A>G
NM_000110.3:c.496A>G , LRG_722t1:c.496A>G NP_000101.2:p.Met166Val
XM_005270562.3:c.496A>G XP_005270619.2:p.Met166Val
XM_006710397.2:c.496A>G XP_006710460.1:p.Met166Val
XM_006710397.3:c.496A>G XP_006710460.1:p.Met166Val
XM_017000507.1:c.385A>G XP_016855996.1:p.Met129Val
XM_017000508.2:c.1A>G XP_016855997.1:p.Met1Val
XM_017000509.2:c.1A>G XP_016855998.1:p.Met1Val
XM_017000510.1:c.1A>G XP_016855999.1:p.Met1Val
XR_001737014.1:n.735A>G
NM_000110.4:c.496A>G MANE Select NP_000101.2:p.Met166Val