Canonical Allele Identifier: CA341376093

Gene: DPYD

Linked Data

• dbSNP Id: rs2101792810
• gnomAD v4: 1-97450147-G-A
• COSMIC: COSM3493648
• MyVariant Identifiers: chr1:g.97915703G>A (hg19) ; chr1:g.97450147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97450147G>A , CM000663.2:g.97450147G>A	GRCh38
NC_000001.10:g.97915703G>A , CM000663.1:g.97915703G>A	GRCh37
NC_000001.9:g.97688291G>A	NCBI36
NG_008807.2:g.475913C>T , LRG_722:g.475913C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1817C>T MANE Select	ENSP00000359211.3:p.Ser606Phe
ENST00000370192.7:c.1817C>T	ENSP00000359211.3:p.Ser606Phe
NM_000110.3:c.1817C>T , LRG_722t1:c.1817C>T	NP_000101.2:p.Ser606Phe
XM_005270562.3:c.1601C>T	XP_005270619.2:p.Ser534Phe
XM_006710397.2:c.1817C>T	XP_006710460.1:p.Ser606Phe
XM_006710397.3:c.1817C>T	XP_006710460.1:p.Ser606Phe
XM_017000507.1:c.1706C>T	XP_016855996.1:p.Ser569Phe
XM_017000508.2:c.1322C>T	XP_016855997.1:p.Ser441Phe
XM_017000509.2:c.1322C>T	XP_016855998.1:p.Ser441Phe
XM_017000510.1:c.1322C>T	XP_016855999.1:p.Ser441Phe
NM_000110.4:c.1817C>T MANE Select	NP_000101.2:p.Ser606Phe