Canonical Allele Identifier: CA16616770
Gene: TYMP HGNC NCBI

Linked Data

ClinVar Variation Id: 223017
ClinVar RCV Id: RCV000208699
dbSNP Id: rs1064792857

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.50529564A>C , CM000684.2:g.50529564A>C GRCh38
NC_000022.10:g.50967993A>C , CM000684.1:g.50967993A>C GRCh37
NC_000022.9:g.49314859A>C NCBI36
NG_011860.1:g.5522T>G , LRG_727:g.5522T>G
NG_016235.1:g.1876T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252029.8:c.146T>G MANE Select ENSP00000252029.3:p.Leu49Arg
ENST00000395680.6:c.146T>G ENSP00000379037.1:p.Leu49Arg
ENST00000395681.6:c.146T>G ENSP00000379038.1:p.Leu49Arg
ENST00000650719.1:c.146T>G ENSP00000498276.1:p.Leu49Arg
ENST00000651095.1:n.285T>G
ENST00000651196.1:c.146T>G ENSP00000499096.1:p.Leu49Arg
ENST00000651401.1:c.-1+340T>G ENSP00000499115.1:n.-1+340T>G
ENST00000651906.1:n.265T>G
ENST00000652237.1:n.265T>G
ENST00000252029.7:c.146T>G ENSP00000252029.3:p.Leu49Arg
ENST00000395678.7:c.146T>G ENSP00000379036.3:p.Leu49Arg
ENST00000395680.5:c.146T>G ENSP00000379037.1:p.Leu49Arg
ENST00000395681.5:c.146T>G ENSP00000379038.1:p.Leu49Arg
ENST00000425169.1:c.146T>G ENSP00000395875.1:p.Leu49Arg
ENST00000476284.1:n.271T>G
ENST00000487162.1:n.277T>G
ENST00000487577.5:n.433T>G
NM_001113755.2:c.146T>G NP_001107227.1:p.Leu49Arg
NM_001113756.2:c.146T>G NP_001107228.1:p.Leu49Arg
NM_001257988.1:c.146T>G , LRG_727t1:c.146T>G NP_001244917.1:p.Leu49Arg
NM_001257989.1:c.146T>G , LRG_727t2:c.146T>G NP_001244918.1:p.Leu49Arg
NM_001953.4:c.146T>G NP_001944.1:p.Leu49Arg
NM_001113755.3:c.146T>G NP_001107227.1:p.Leu49Arg
NM_001113756.3:c.146T>G NP_001107228.1:p.Leu49Arg
NM_001953.5:c.146T>G MANE Select NP_001944.1:p.Leu49Arg