Canonical Allele Identifier: CA963334

Gene: DPYD

Linked Data

• dbSNP Id: rs761555670
• ExAC: 1:98015135 T / C
• gnomAD v2: 1-98015135-T-C
• gnomAD v4: 1-97549579-T-C
• MyVariant Identifiers: chr1:g.98015135T>C (hg19) ; chr1:g.97549579T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97549579T>C , CM000663.2:g.97549579T>C	GRCh38
NC_000001.10:g.98015135T>C , CM000663.1:g.98015135T>C	GRCh37
NC_000001.9:g.97787723T>C	NCBI36
NG_008807.2:g.376481A>G , LRG_722:g.376481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1505A>G MANE Select	ENSP00000359211.3:p.Tyr502Cys
ENST00000370192.7:c.1505A>G	ENSP00000359211.3:p.Tyr502Cys
NM_000110.3:c.1505A>G , LRG_722t1:c.1505A>G	NP_000101.2:p.Tyr502Cys
XM_005270562.3:c.1505A>G	XP_005270619.2:p.Tyr502Cys
XM_006710397.2:c.1505A>G	XP_006710460.1:p.Tyr502Cys
XM_006710397.3:c.1505A>G	XP_006710460.1:p.Tyr502Cys
XM_017000507.1:c.1394A>G	XP_016855996.1:p.Tyr465Cys
XM_017000508.2:c.1010A>G	XP_016855997.1:p.Tyr337Cys
XM_017000509.2:c.1010A>G	XP_016855998.1:p.Tyr337Cys
XM_017000510.1:c.1010A>G	XP_016855999.1:p.Tyr337Cys
NM_000110.4:c.1505A>G MANE Select	NP_000101.2:p.Tyr502Cys