Canonical Allele Identifier: CA963767

Gene: DPYD

Linked Data

• ClinVar Variation Id: 370660
• ClinVar RCV Id: RCV000409115
• dbSNP Id: rs141597515
• ExAC: 1:98293695 G / A
• gnomAD v2: 1-98293695-G-A
• gnomAD v3: 1-97828139-G-A
• gnomAD v4: 1-97828139-G-A
• MyVariant Identifiers: chr1:g.98293695G>A (hg19) ; chr1:g.97828139G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97828139G>A , CM000663.2:g.97828139G>A	GRCh38
NC_000001.10:g.98293695G>A , CM000663.1:g.98293695G>A	GRCh37
NC_000001.9:g.98066283G>A	NCBI36
NG_008807.2:g.97921C>T , LRG_722:g.97921C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.208C>T MANE Select	ENSP00000359211.3:p.Arg70Ter
ENST00000306031.5:c.208C>T	ENSP00000307107.5:p.Arg70Ter
ENST00000370192.7:c.208C>T	ENSP00000359211.3:p.Arg70Ter
NM_000110.3:c.208C>T , LRG_722t1:c.208C>T	NP_000101.2:p.Arg70Ter
NM_001160301.1:c.208C>T , LRG_722t2:c.208C>T	NP_001153773.1:p.Arg70Ter
XM_005270562.3:c.208C>T	XP_005270619.2:p.Arg70Ter
XM_006710397.2:c.208C>T	XP_006710460.1:p.Arg70Ter
XM_006710397.3:c.208C>T	XP_006710460.1:p.Arg70Ter
XM_017000507.1:c.97C>T	XP_016855996.1:p.Arg33Ter
XM_017000508.2:c.-503C>T	XP_016855997.1:n.-503C>T
XM_017000509.2:c.-401C>T	XP_016855998.1:n.-401C>T
XM_017000510.1:c.-401C>T	XP_016855999.1:n.-401C>T
XR_001737014.1:n.345C>T
NM_000110.4:c.208C>T MANE Select	NP_000101.2:p.Arg70Ter