Canonical Allele Identifier: CA341379955
Gene: DPYD HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.496A>T MANE Select ENSP00000359211.3:p.Met166Leu
ENST00000370192.7:c.496A>T ENSP00000359211.3:p.Met166Leu
ENST00000474241.1:n.260A>T
NM_000110.3:c.496A>T , LRG_722t1:c.496A>T NP_000101.2:p.Met166Leu
XM_005270562.3:c.496A>T XP_005270619.2:p.Met166Leu
XM_006710397.2:c.496A>T XP_006710460.1:p.Met166Leu
XM_006710397.3:c.496A>T XP_006710460.1:p.Met166Leu
XM_017000507.1:c.385A>T XP_016855996.1:p.Met129Leu
XM_017000508.2:c.1A>T XP_016855997.1:p.Met1Leu
XM_017000509.2:c.1A>T XP_016855998.1:p.Met1Leu
XM_017000510.1:c.1A>T XP_016855999.1:p.Met1Leu
XR_001737014.1:n.735A>T
NM_000110.4:c.496A>T MANE Select NP_000101.2:p.Met166Leu