Canonical Allele Identifier: CA963340
Gene: DPYD HGNC NCBI
COSMIC:
COSM913615
MyVariant.info:
GRCh38 chr1:g.97549609G>A
GRCh37 chr1:g.98015165G>A
Revel Score:
ENST00000370192 (MANE Select) 0.710
gnomAD v2:
1:98015165 G / A
gnomAD v3:
1:97549609 G / A
gnomAD v4:
chr1-97549609-G-A
Joint Max Group AF 0.00016268 (SAS)
Genomes Max Group AF 0.0000474 (AFR)
Exomes Max Group AF 0.00016299 (SAS)
ClinVar RCV:
RCV000393255
ClinVar Variation:
298293
dbSNP:
72549304
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.97549609G>A , CM000663.2:g.97549609G>A GRCh38
NC_000001.10:g.98015165G>A , CM000663.1:g.98015165G>A GRCh37
NC_000001.9:g.97787753G>A NCBI36
NG_008807.2:g.376451C>T , LRG_722:g.376451C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000370192.8:c.1475C>T MANE Select ENSP00000359211.3:p.Ser492Leu
ENST00000370192.7:c.1475C>T ENSP00000359211.3:p.Ser492Leu
NM_000110.3:c.1475C>T , LRG_722t1:c.1475C>T NP_000101.2:p.Ser492Leu
XM_005270562.3:c.1475C>T XP_005270619.2:p.Ser492Leu
XM_006710397.2:c.1475C>T XP_006710460.1:p.Ser492Leu
XM_006710397.3:c.1475C>T XP_006710460.1:p.Ser492Leu
XM_017000507.1:c.1364C>T XP_016855996.1:p.Ser455Leu
XM_017000508.2:c.980C>T XP_016855997.1:p.Ser327Leu
XM_017000509.2:c.980C>T XP_016855998.1:p.Ser327Leu
XM_017000510.1:c.980C>T XP_016855999.1:p.Ser327Leu
NM_000110.4:c.1475C>T MANE Select NP_000101.2:p.Ser492Leu
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