Canonical Allele Identifier: CA341379226

Gene: DPYD

Linked Data

• MyVariant Identifiers: chr1:g.98157293T>G (hg19) ; chr1:g.97691737T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.97691737T>G , CM000663.2:g.97691737T>G	GRCh38
NC_000001.10:g.98157293T>G , CM000663.1:g.98157293T>G	GRCh37
NC_000001.9:g.97929881T>G	NCBI36
NG_008807.2:g.234323A>C , LRG_722:g.234323A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370192.8:c.742A>C MANE Select	ENSP00000359211.3:p.Met248Leu
ENST00000370192.7:c.742A>C	ENSP00000359211.3:p.Met248Leu
ENST00000474241.1:n.506A>C
NM_000110.3:c.742A>C , LRG_722t1:c.742A>C	NP_000101.2:p.Met248Leu
XM_005270562.3:c.742A>C	XP_005270619.2:p.Met248Leu
XM_006710397.2:c.742A>C	XP_006710460.1:p.Met248Leu
XM_006710397.3:c.742A>C	XP_006710460.1:p.Met248Leu
XM_017000507.1:c.631A>C	XP_016855996.1:p.Met211Leu
XM_017000508.2:c.247A>C	XP_016855997.1:p.Met83Leu
XM_017000509.2:c.247A>C	XP_016855998.1:p.Met83Leu
XM_017000510.1:c.247A>C	XP_016855999.1:p.Met83Leu
NM_000110.4:c.742A>C MANE Select	NP_000101.2:p.Met248Leu