Canonical Allele Identifier: CA341378441

Gene: DPYD

Linked Data

• dbSNP Id: rs1570880795
• gnomAD v3: 1-97515863-C-G
• gnomAD v4: 1-97515863-C-G
• MyVariant Identifiers: chr1:g.97981419C>G (hg19) ; chr1:g.97515863C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97515863C>G , CM000663.2:g.97515863C>G	GRCh38
NC_000001.10:g.97981419C>G , CM000663.1:g.97981419C>G	GRCh37
NC_000001.9:g.97754007C>G	NCBI36
NG_008807.2:g.410197G>C , LRG_722:g.410197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.1603G>C MANE Select	ENSP00000359211.3:p.Val535Leu
ENST00000370192.7:c.1603G>C	ENSP00000359211.3:p.Val535Leu
NM_000110.3:c.1603G>C , LRG_722t1:c.1603G>C	NP_000101.2:p.Val535Leu
XM_005270562.3:c.1524+33697G>C	XP_005270619.2:n.1524+33697G>C
XM_006710397.2:c.1603G>C	XP_006710460.1:p.Val535Leu
XM_006710397.3:c.1603G>C	XP_006710460.1:p.Val535Leu
XM_017000507.1:c.1492G>C	XP_016855996.1:p.Val498Leu
XM_017000508.2:c.1108G>C	XP_016855997.1:p.Val370Leu
XM_017000509.2:c.1108G>C	XP_016855998.1:p.Val370Leu
XM_017000510.1:c.1108G>C	XP_016855999.1:p.Val370Leu
NM_000110.4:c.1603G>C MANE Select	NP_000101.2:p.Val535Leu