Canonical Allele Identifier: CA16040802
Gene: DPYD HGNC NCBI
COSMIC:
COSM298652
MyVariant.info:
GRCh38 chr1:g.97515785G>A
GRCh37 chr1:g.97981341G>A
gnomAD v2:
1:97981341 G / A
gnomAD v3:
1:97515785 G / A
gnomAD v4:
chr1-97515785-G-A
Joint Max Group AF 0.00001065 (AFR)
Genomes Max Group AF 0.00001922 (AFR)
Exomes Max Group AF 0.00000194 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97515785G>A , CM000663.2:g.97515785G>A GRCh38
NC_000001.10:g.97981341G>A , CM000663.1:g.97981341G>A GRCh37
NC_000001.9:g.97753929G>A NCBI36
NG_008807.2:g.410275C>T , LRG_722:g.410275C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1681C>T MANE Select ENSP00000359211.3:p.Arg561Ter
ENST00000370192.7:c.1681C>T ENSP00000359211.3:p.Arg561Ter
NM_000110.3:c.1681C>T , LRG_722t1:c.1681C>T NP_000101.2:p.Arg561Ter
XM_005270562.3:c.1524+33775C>T XP_005270619.2:n.1524+33775C>T
XM_006710397.2:c.1681C>T XP_006710460.1:p.Arg561Ter
XM_006710397.3:c.1681C>T XP_006710460.1:p.Arg561Ter
XM_017000507.1:c.1570C>T XP_016855996.1:p.Arg524Ter
XM_017000508.2:c.1186C>T XP_016855997.1:p.Arg396Ter
XM_017000509.2:c.1186C>T XP_016855998.1:p.Arg396Ter
XM_017000510.1:c.1186C>T XP_016855999.1:p.Arg396Ter
NM_000110.4:c.1681C>T MANE Select NP_000101.2:p.Arg561Ter
Search 100 bp 5'
Search 100 bp 3'