Canonical Allele Identifier: CA412201224

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1390518
• ClinVar RCV Id: RCV001910763
• dbSNP Id: rs2148680412
• MyVariant Identifiers: chr22:g.50966070A>G (hg19) ; chr22:g.50527641A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50527641A>G , CM000684.2:g.50527641A>G	GRCh38
NC_000022.10:g.50966070A>G , CM000684.1:g.50966070A>G	GRCh37
NC_000022.9:g.49312936A>G	NCBI36
NG_011860.1:g.7445T>C , LRG_727:g.7445T>C
NG_016235.1:g.3799T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.593T>C MANE Select	ENSP00000252029.3:p.Leu198Pro
ENST00000395680.6:c.593T>C	ENSP00000379037.1:p.Leu198Pro
ENST00000395681.6:c.593T>C	ENSP00000379038.1:p.Leu198Pro
ENST00000650719.1:c.593T>C	ENSP00000498276.1:p.Leu198Pro
ENST00000651401.1:c.77T>C	ENSP00000499115.1:p.Leu26Pro
ENST00000651906.1:n.712T>C
ENST00000652352.1:c.304T>C	ENSP00000498579.1:p.Tyr102His
ENST00000652401.1:c.49T>C
ENST00000252029.7:c.593T>C	ENSP00000252029.3:p.Leu198Pro
ENST00000395678.7:c.593T>C	ENSP00000379036.3:p.Leu198Pro
ENST00000395680.5:c.593T>C	ENSP00000379037.1:p.Leu198Pro
ENST00000395681.5:c.593T>C	ENSP00000379038.1:p.Leu198Pro
ENST00000425169.1:c.494T>C	ENSP00000395875.1:p.Leu165Pro
ENST00000476284.1:n.718T>C
ENST00000487577.5:n.880T>C
NM_001113755.2:c.593T>C	NP_001107227.1:p.Leu198Pro
NM_001113756.2:c.593T>C	NP_001107228.1:p.Leu198Pro
NM_001257988.1:c.593T>C , LRG_727t1:c.593T>C	NP_001244917.1:p.Leu198Pro
NM_001257989.1:c.593T>C , LRG_727t2:c.593T>C	NP_001244918.1:p.Leu198Pro
NM_001953.4:c.593T>C	NP_001944.1:p.Leu198Pro
NM_001113755.3:c.593T>C	NP_001107227.1:p.Leu198Pro
NM_001113756.3:c.593T>C	NP_001107228.1:p.Leu198Pro
NM_001953.5:c.593T>C MANE Select	NP_001944.1:p.Leu198Pro