Canonical Allele Identifier: CA16616773

Gene: TYMP

Linked Data

• ClinVar Variation Id: 223021
• ClinVar RCV Id: RCV000208640
• dbSNP Id: rs749827433
• MyVariant Identifiers: chr22:g.50967721C>A (hg19) ; chr22:g.50529292C>A (hg38)
• PubMed: PMID:15781193 ; PMID:20301358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529292C>A , CM000684.2:g.50529292C>A	GRCh38
NC_000022.10:g.50967721C>A , CM000684.1:g.50967721C>A	GRCh37
NC_000022.9:g.49314587C>A	NCBI36
NG_011860.1:g.5794G>T , LRG_727:g.5794G>T
NG_016235.1:g.2148G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.261G>T MANE Select	ENSP00000252029.3:p.Glu87Asp
ENST00000395680.6:c.261G>T	ENSP00000379037.1:p.Glu87Asp
ENST00000395681.6:c.261G>T	ENSP00000379038.1:p.Glu87Asp
ENST00000650719.1:c.261G>T	ENSP00000498276.1:p.Glu87Asp
ENST00000651095.1:n.400G>T
ENST00000651196.1:c.261G>T	ENSP00000499096.1:p.Glu87Asp
ENST00000651401.1:c.-1+612G>T	ENSP00000499115.1:n.-1+612G>T
ENST00000651906.1:n.380G>T
ENST00000652237.1:n.537G>T
ENST00000652352.1:c.9G>T	ENSP00000498579.1:p.Glu3Asp
ENST00000252029.7:c.261G>T	ENSP00000252029.3:p.Glu87Asp
ENST00000395678.7:c.261G>T	ENSP00000379036.3:p.Glu87Asp
ENST00000395680.5:c.261G>T	ENSP00000379037.1:p.Glu87Asp
ENST00000395681.5:c.261G>T	ENSP00000379038.1:p.Glu87Asp
ENST00000425169.1:c.261G>T	ENSP00000395875.1:p.Glu87Asp
ENST00000476284.1:n.386G>T
ENST00000487162.1:n.549G>T
ENST00000487577.5:n.548G>T
NM_001113755.2:c.261G>T	NP_001107227.1:p.Glu87Asp
NM_001113756.2:c.261G>T	NP_001107228.1:p.Glu87Asp
NM_001257988.1:c.261G>T , LRG_727t1:c.261G>T	NP_001244917.1:p.Glu87Asp
NM_001257989.1:c.261G>T , LRG_727t2:c.261G>T	NP_001244918.1:p.Glu87Asp
NM_001953.4:c.261G>T	NP_001944.1:p.Glu87Asp
NM_001113755.3:c.261G>T	NP_001107227.1:p.Glu87Asp
NM_001113756.3:c.261G>T	NP_001107228.1:p.Glu87Asp
NM_001953.5:c.261G>T MANE Select	NP_001944.1:p.Glu87Asp