Canonical Allele Identifier: CA126797

Gene: TYMP

Linked Data

• ClinVar Variation Id: 16665
• ClinVar RCV Id: RCV000018145
• dbSNP Id: rs121913041
• MyVariant Identifiers: chr22:g.50966058C>G (hg19) ; chr22:g.50527629C>G (hg38)
• PubMed: PMID:16178026 ; PMID:20301358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527629C>G , CM000684.2:g.50527629C>G	GRCh38
NC_000022.10:g.50966058C>G , CM000684.1:g.50966058C>G	GRCh37
NC_000022.9:g.49312924C>G	NCBI36
NG_011860.1:g.7457G>C , LRG_727:g.7457G>C
NG_016235.1:g.3811G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.605G>C MANE Select	ENSP00000252029.3:p.Arg202Thr
ENST00000395680.6:c.605G>C	ENSP00000379037.1:p.Arg202Thr
ENST00000395681.6:c.605G>C	ENSP00000379038.1:p.Arg202Thr
ENST00000650719.1:c.605G>C	ENSP00000498276.1:p.Arg202Thr
ENST00000651401.1:c.89G>C	ENSP00000499115.1:p.Arg30Thr
ENST00000651906.1:n.724G>C
ENST00000652352.1:c.316G>C	ENSP00000498579.1:p.Glu106Gln
ENST00000652401.1:c.61G>C
ENST00000252029.7:c.605G>C	ENSP00000252029.3:p.Arg202Thr
ENST00000395678.7:c.605G>C	ENSP00000379036.3:p.Arg202Thr
ENST00000395680.5:c.605G>C	ENSP00000379037.1:p.Arg202Thr
ENST00000395681.5:c.605G>C	ENSP00000379038.1:p.Arg202Thr
ENST00000425169.1:c.506G>C	ENSP00000395875.1:p.Arg169Thr
ENST00000476284.1:n.730G>C
ENST00000487577.5:n.892G>C
NM_001113755.2:c.605G>C	NP_001107227.1:p.Arg202Thr
NM_001113756.2:c.605G>C	NP_001107228.1:p.Arg202Thr
NM_001257988.1:c.605G>C , LRG_727t1:c.605G>C	NP_001244917.1:p.Arg202Thr
NM_001257989.1:c.605G>C , LRG_727t2:c.605G>C	NP_001244918.1:p.Arg202Thr
NM_001953.4:c.605G>C	NP_001944.1:p.Arg202Thr
NM_001113755.3:c.605G>C	NP_001107227.1:p.Arg202Thr
NM_001113756.3:c.605G>C	NP_001107228.1:p.Arg202Thr
NM_001953.5:c.605G>C MANE Select	NP_001944.1:p.Arg202Thr