Canonical Allele Identifier: CA2573158295

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1648794
• ClinVar RCV Id: RCV002141369
• dbSNP Id: rs2148678492
• gnomAD v4: 22-50526566-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526571dup , CM000684.2:g.50526571dup	GRCh38
NC_000022.10:g.50965000dup , CM000684.1:g.50965000dup	GRCh37
NC_000022.9:g.49311866dup	NCBI36
NG_011860.1:g.8519dup , LRG_727:g.8519dup
NG_016235.1:g.4873dup
NG_021419.1:g.23356dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.928+9dup MANE Select	ENSP00000252029.3:n.928+9dup
ENST00000395680.6:c.928+9dup	ENSP00000379037.1:n.928+9dup
ENST00000395681.6:c.928+9dup	ENSP00000379038.1:n.928+9dup
ENST00000650719.1:c.809+9dup	ENSP00000498276.1:n.809+9dup
ENST00000651401.1:c.412+9dup	ENSP00000499115.1:n.412+9dup
ENST00000652401.1:c.429+9dup
ENST00000252029.7:c.928+9dup	ENSP00000252029.3:n.928+9dup
ENST00000395678.7:c.928+9dup	ENSP00000379036.3:n.928+9dup
ENST00000395680.5:c.928+9dup	ENSP00000379037.1:n.928+9dup
ENST00000395681.5:c.928+9dup	ENSP00000379038.1:n.928+9dup
ENST00000425169.1:c.829+9dup	ENSP00000395875.1:n.829+9dup
ENST00000476284.1:n.934+9dup
ENST00000487577.5:n.1215+9dup
NM_001113755.2:c.928+9dup	NP_001107227.1:n.928+9dup
NM_001113756.2:c.928+9dup	NP_001107228.1:n.928+9dup
NM_001257988.1:c.928+9dup , LRG_727t1:c.928+9dup	NP_001244917.1:n.928+9dup
NM_001257989.1:c.928+9dup , LRG_727t2:c.928+9dup	NP_001244918.1:n.928+9dup
NM_001953.4:c.928+9dup	NP_001944.1:n.928+9dup
NM_001113755.3:c.928+9dup	NP_001107227.1:n.928+9dup
NM_001113756.3:c.928+9dup	NP_001107228.1:n.928+9dup
NM_001953.5:c.928+9dup MANE Select	NP_001944.1:n.928+9dup