Canonical Allele Identifier: CA16616766
Community Standard Title: NM_001953.5(TYMP):c.647C>T (p.Ala216Val)
Gene: TYMP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50527283G>A , CM000684.2:g.50527283G>A GRCh38
NC_000022.10:g.50965712G>A , CM000684.1:g.50965712G>A GRCh37
NC_000022.9:g.49312578G>A NCBI36
NG_011860.1:g.7803C>T , LRG_727:g.7803C>T
NG_016235.1:g.4157C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001953.5:c.647C>T MANE Select NP_001944.1:p.Ala216Val
ENST00000252029.8:c.647C>T MANE Select ENSP00000252029.3:p.Ala216Val
NM_001113755.2:c.647C>T NP_001107227.1:p.Ala216Val
NM_001113755.3:c.647C>T NP_001107227.1:p.Ala216Val
NM_001113756.2:c.647C>T NP_001107228.1:p.Ala216Val
NM_001113756.3:c.647C>T NP_001107228.1:p.Ala216Val
NM_001257988.1:c.647C>T , LRG_727t1:c.647C>T NP_001244917.1:p.Ala216Val
NM_001257989.1:c.647C>T , LRG_727t2:c.647C>T NP_001244918.1:p.Ala216Val
NM_001953.4:c.647C>T NP_001944.1:p.Ala216Val
ENST00000252029.7:c.647C>T ENSP00000252029.3:p.Ala216Val
ENST00000395678.7:c.647C>T ENSP00000379036.3:p.Ala216Val
ENST00000395680.5:c.647C>T ENSP00000379037.1:p.Ala216Val
ENST00000395680.6:c.647C>T ENSP00000379037.1:p.Ala216Val
ENST00000395681.5:c.647C>T ENSP00000379038.1:p.Ala216Val
ENST00000395681.6:c.647C>T ENSP00000379038.1:p.Ala216Val
ENST00000425169.1:c.548C>T ENSP00000395875.1:p.Ala183Val
ENST00000476284.1:n.771+305C>T
ENST00000487577.5:n.934C>T
ENST00000650719.1:c.646+305C>T ENSP00000498276.1:n.646+305C>T
ENST00000651401.1:c.131C>T ENSP00000499115.1:p.Ala44Val
ENST00000651906.1:n.1070C>T
ENST00000652352.1:c.358C>T ENSP00000498579.1:n.358C>T
ENST00000652401.1:c.148C>T