Canonical Allele Identifier: CA412199164

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2139320
• ClinVar RCV Id: RCV003050953
• dbSNP Id: rs2069398561
• gnomAD v3: 22-50526666-A-G
• gnomAD v4: 22-50526666-A-G
• MyVariant Identifiers: chr22:g.50965095A>G (hg19) ; chr22:g.50526666A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526666A>G , CM000684.2:g.50526666A>G	GRCh38
NC_000022.10:g.50965095A>G , CM000684.1:g.50965095A>G	GRCh37
NC_000022.9:g.49311961A>G	NCBI36
NG_011860.1:g.8420T>C , LRG_727:g.8420T>C
NG_016235.1:g.4774T>C
NG_021419.1:g.23451A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.838T>C MANE Select	ENSP00000252029.3:p.Cys280Arg
ENST00000395680.6:c.838T>C	ENSP00000379037.1:p.Cys280Arg
ENST00000395681.6:c.838T>C	ENSP00000379038.1:p.Cys280Arg
ENST00000650719.1:c.719T>C	ENSP00000498276.1:p.Leu240Pro
ENST00000651401.1:c.322T>C	ENSP00000499115.1:p.Cys108Arg
ENST00000652401.1:c.339T>C
ENST00000252029.7:c.838T>C	ENSP00000252029.3:p.Cys280Arg
ENST00000395678.7:c.838T>C	ENSP00000379036.3:p.Cys280Arg
ENST00000395680.5:c.838T>C	ENSP00000379037.1:p.Cys280Arg
ENST00000395681.5:c.838T>C	ENSP00000379038.1:p.Cys280Arg
ENST00000425169.1:c.739T>C	ENSP00000395875.1:p.Cys247Arg
ENST00000476284.1:n.844T>C
ENST00000487577.5:n.1125T>C
NM_001113755.2:c.838T>C	NP_001107227.1:p.Cys280Arg
NM_001113756.2:c.838T>C	NP_001107228.1:p.Cys280Arg
NM_001257988.1:c.838T>C , LRG_727t1:c.838T>C	NP_001244917.1:p.Cys280Arg
NM_001257989.1:c.838T>C , LRG_727t2:c.838T>C	NP_001244918.1:p.Cys280Arg
NM_001953.4:c.838T>C	NP_001944.1:p.Cys280Arg
NM_001113755.3:c.838T>C	NP_001107227.1:p.Cys280Arg
NM_001113756.3:c.838T>C	NP_001107228.1:p.Cys280Arg
NM_001953.5:c.838T>C MANE Select	NP_001944.1:p.Cys280Arg