Canonical Allele Identifier: CA412199142

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1921794
• ClinVar RCV Id: RCV002613301
• dbSNP Id: rs1272477035
• gnomAD v2: 22-50965092-C-T
• gnomAD v3: 22-50526663-C-T
• gnomAD v4: 22-50526663-C-T
• MyVariant Identifiers: chr22:g.50965092C>T (hg19) ; chr22:g.50526663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526663C>T , CM000684.2:g.50526663C>T	GRCh38
NC_000022.10:g.50965092C>T , CM000684.1:g.50965092C>T	GRCh37
NC_000022.9:g.49311958C>T	NCBI36
NG_011860.1:g.8423G>A , LRG_727:g.8423G>A
NG_016235.1:g.4777G>A
NG_021419.1:g.23448C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.841G>A MANE Select	ENSP00000252029.3:p.Val281Met
ENST00000395680.6:c.841G>A	ENSP00000379037.1:p.Val281Met
ENST00000395681.6:c.841G>A	ENSP00000379038.1:p.Val281Met
ENST00000650719.1:c.722G>A	ENSP00000498276.1:p.Arg241His
ENST00000651401.1:c.325G>A	ENSP00000499115.1:p.Val109Met
ENST00000652401.1:c.342G>A
ENST00000252029.7:c.841G>A	ENSP00000252029.3:p.Val281Met
ENST00000395678.7:c.841G>A	ENSP00000379036.3:p.Val281Met
ENST00000395680.5:c.841G>A	ENSP00000379037.1:p.Val281Met
ENST00000395681.5:c.841G>A	ENSP00000379038.1:p.Val281Met
ENST00000425169.1:c.742G>A	ENSP00000395875.1:p.Val248Met
ENST00000476284.1:n.847G>A
ENST00000487577.5:n.1128G>A
NM_001113755.2:c.841G>A	NP_001107227.1:p.Val281Met
NM_001113756.2:c.841G>A	NP_001107228.1:p.Val281Met
NM_001257988.1:c.841G>A , LRG_727t1:c.841G>A	NP_001244917.1:p.Val281Met
NM_001257989.1:c.841G>A , LRG_727t2:c.841G>A	NP_001244918.1:p.Val281Met
NM_001953.4:c.841G>A	NP_001944.1:p.Val281Met
NM_001113755.3:c.841G>A	NP_001107227.1:p.Val281Met
NM_001113756.3:c.841G>A	NP_001107228.1:p.Val281Met
NM_001953.5:c.841G>A MANE Select	NP_001944.1:p.Val281Met