Canonical Allele Identifier: CA10321731

Gene: TYMP

Linked Data

• ClinVar Variation Id: 671618
• ClinVar RCV Id: RCV000830814
• dbSNP Id: rs470119
• ExAC: 22:50966914 T / C
• gnomAD v2: 22-50966914-T-C
• gnomAD v3: 22-50528485-T-C
• gnomAD v4: 22-50528485-T-C
• MyVariant Identifiers: chr22:g.50966914T>C (hg19) ; chr22:g.50528485T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50528485T>C , CM000684.2:g.50528485T>C	GRCh38
NC_000022.10:g.50966914T>C , CM000684.1:g.50966914T>C	GRCh37
NC_000022.9:g.49313780T>C	NCBI36
NG_011860.1:g.6601A>G , LRG_727:g.6601A>G
NG_016235.1:g.2955A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.516+27A>G MANE Select	ENSP00000252029.3:n.516+27A>G
ENST00000395680.6:c.516+27A>G	ENSP00000379037.1:n.516+27A>G
ENST00000395681.6:c.516+27A>G	ENSP00000379038.1:n.516+27A>G
ENST00000650719.1:c.516+27A>G	ENSP00000498276.1:n.516+27A>G
ENST00000651401.1:c.1-768A>G	ENSP00000499115.1:n.1-768A>G
ENST00000651906.1:n.635+27A>G
ENST00000652352.1:c.227+27A>G	ENSP00000498579.1:n.227+27A>G
ENST00000252029.7:c.516+27A>G	ENSP00000252029.3:n.516+27A>G
ENST00000395678.7:c.516+27A>G	ENSP00000379036.3:n.516+27A>G
ENST00000395680.5:c.516+27A>G	ENSP00000379037.1:n.516+27A>G
ENST00000395681.5:c.516+27A>G	ENSP00000379038.1:n.516+27A>G
ENST00000425169.1:c.417+651A>G	ENSP00000395875.1:n.417+651A>G
ENST00000476284.1:n.641+27A>G
ENST00000487162.1:n.1356A>G
ENST00000487577.5:n.803+27A>G
NM_001113755.2:c.516+27A>G	NP_001107227.1:n.516+27A>G
NM_001113756.2:c.516+27A>G	NP_001107228.1:n.516+27A>G
NM_001257988.1:c.516+27A>G , LRG_727t1:c.516+27A>G	NP_001244917.1:n.516+27A>G
NM_001257989.1:c.516+27A>G , LRG_727t2:c.516+27A>G	NP_001244918.1:n.516+27A>G
NM_001953.4:c.516+27A>G	NP_001944.1:n.516+27A>G
NM_001113755.3:c.516+27A>G	NP_001107227.1:n.516+27A>G
NM_001113756.3:c.516+27A>G	NP_001107228.1:n.516+27A>G
NM_001953.5:c.516+27A>G MANE Select	NP_001944.1:n.516+27A>G