Canonical Allele Identifier: CA515275660

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1158280
• ClinVar RCV Id: RCV001501625
• dbSNP Id: rs1603442050
• gnomAD v3: 22-50529190-C-T
• gnomAD v4: 22-50529190-C-T
• MyVariant Identifiers: chr22:g.50967619C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529190C>T , CM000684.2:g.50529190C>T	GRCh38
NC_000022.10:g.50967619C>T , CM000684.1:g.50967619C>T	GRCh37
NC_000022.9:g.49314485C>T	NCBI36
NG_011860.1:g.5896G>A , LRG_727:g.5896G>A
NG_016235.1:g.2250G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.363G>A MANE Select	ENSP00000252029.3:p.Val121=
ENST00000395680.6:c.363G>A	ENSP00000379037.1:p.Val121=
ENST00000395681.6:c.363G>A	ENSP00000379038.1:p.Val121=
ENST00000650719.1:c.363G>A	ENSP00000498276.1:p.Val121=
ENST00000651095.1:n.502G>A
ENST00000651196.1:c.363G>A	ENSP00000499096.1:p.Val121=
ENST00000651401.1:c.-1+714G>A	ENSP00000499115.1:n.-1+714G>A
ENST00000651906.1:n.482G>A
ENST00000652237.1:n.639G>A
ENST00000652352.1:c.111G>A	ENSP00000498579.1:p.Val37=
ENST00000252029.7:c.363G>A	ENSP00000252029.3:p.Val121=
ENST00000395678.7:c.363G>A	ENSP00000379036.3:p.Val121=
ENST00000395680.5:c.363G>A	ENSP00000379037.1:p.Val121=
ENST00000395681.5:c.363G>A	ENSP00000379038.1:p.Val121=
ENST00000425169.1:c.363G>A	ENSP00000395875.1:p.Val121=
ENST00000476284.1:n.488G>A
ENST00000487162.1:n.651G>A
ENST00000487577.5:n.650G>A
NM_001113755.2:c.363G>A	NP_001107227.1:p.Val121=
NM_001113756.2:c.363G>A	NP_001107228.1:p.Val121=
NM_001257988.1:c.363G>A , LRG_727t1:c.363G>A	NP_001244917.1:p.Val121=
NM_001257989.1:c.363G>A , LRG_727t2:c.363G>A	NP_001244918.1:p.Val121=
NM_001953.4:c.363G>A	NP_001944.1:p.Val121=
NM_001113755.3:c.363G>A	NP_001107227.1:p.Val121=
NM_001113756.3:c.363G>A	NP_001107228.1:p.Val121=
NM_001953.5:c.363G>A MANE Select	NP_001944.1:p.Val121=