Canonical Allele Identifier: CA412200457

Gene: TYMP

Linked Data

• MyVariant Identifiers: chr22:g.50965604G>T (hg19) ; chr22:g.50527175G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527175G>T , CM000684.2:g.50527175G>T	GRCh38
NC_000022.10:g.50965604G>T , CM000684.1:g.50965604G>T	GRCh37
NC_000022.9:g.49312470G>T	NCBI36
NG_011860.1:g.7911C>A , LRG_727:g.7911C>A
NG_016235.1:g.4265C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.755C>A MANE Select	ENSP00000252029.3:p.Ala252Glu
ENST00000395680.6:c.755C>A	ENSP00000379037.1:p.Ala252Glu
ENST00000395681.6:c.755C>A	ENSP00000379038.1:p.Ala252Glu
ENST00000650719.1:c.646+413C>A	ENSP00000498276.1:n.646+413C>A
ENST00000651401.1:c.239C>A	ENSP00000499115.1:p.Ala80Glu
ENST00000652352.1:c.466C>A	ENSP00000498579.1:n.466C>A
ENST00000652401.1:c.256C>A
ENST00000252029.7:c.755C>A	ENSP00000252029.3:p.Ala252Glu
ENST00000395678.7:c.755C>A	ENSP00000379036.3:p.Ala252Glu
ENST00000395680.5:c.755C>A	ENSP00000379037.1:p.Ala252Glu
ENST00000395681.5:c.755C>A	ENSP00000379038.1:p.Ala252Glu
ENST00000425169.1:c.656C>A	ENSP00000395875.1:p.Ala219Glu
ENST00000476284.1:n.771+413C>A
ENST00000487577.5:n.1042C>A
NM_001113755.2:c.755C>A	NP_001107227.1:p.Ala252Glu
NM_001113756.2:c.755C>A	NP_001107228.1:p.Ala252Glu
NM_001257988.1:c.755C>A , LRG_727t1:c.755C>A	NP_001244917.1:p.Ala252Glu
NM_001257989.1:c.755C>A , LRG_727t2:c.755C>A	NP_001244918.1:p.Ala252Glu
NM_001953.4:c.755C>A	NP_001944.1:p.Ala252Glu
NM_001113755.3:c.755C>A	NP_001107227.1:p.Ala252Glu
NM_001113756.3:c.755C>A	NP_001107228.1:p.Ala252Glu
NM_001953.5:c.755C>A MANE Select	NP_001944.1:p.Ala252Glu