Canonical Allele Identifier: CA2573158311

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1667748
• ClinVar RCV Id: RCV002195836
• dbSNP Id: rs2148681903
• gnomAD v4: 22-50528619-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50528619C>G , CM000684.2:g.50528619C>G	GRCh38
NC_000022.10:g.50967048C>G , CM000684.1:g.50967048C>G	GRCh37
NC_000022.9:g.49313914C>G	NCBI36
NG_011860.1:g.6467G>C , LRG_727:g.6467G>C
NG_016235.1:g.2821G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.418-9G>C MANE Select	ENSP00000252029.3:n.418-9G>C
ENST00000395680.6:c.418-9G>C	ENSP00000379037.1:n.418-9G>C
ENST00000395681.6:c.418-9G>C	ENSP00000379038.1:n.418-9G>C
ENST00000650719.1:c.418-9G>C	ENSP00000498276.1:n.418-9G>C
ENST00000651401.1:c.1-902G>C	ENSP00000499115.1:n.1-902G>C
ENST00000651906.1:n.537-9G>C
ENST00000652352.1:c.166-46G>C	ENSP00000498579.1:n.166-46G>C
ENST00000252029.7:c.418-9G>C	ENSP00000252029.3:n.418-9G>C
ENST00000395678.7:c.418-9G>C	ENSP00000379036.3:n.418-9G>C
ENST00000395680.5:c.418-9G>C	ENSP00000379037.1:n.418-9G>C
ENST00000395681.5:c.418-9G>C	ENSP00000379038.1:n.418-9G>C
ENST00000425169.1:c.417+517G>C	ENSP00000395875.1:n.417+517G>C
ENST00000476284.1:n.543-9G>C
ENST00000487162.1:n.1222G>C
ENST00000487577.5:n.705-9G>C
NM_001113755.2:c.418-9G>C	NP_001107227.1:n.418-9G>C
NM_001113756.2:c.418-9G>C	NP_001107228.1:n.418-9G>C
NM_001257988.1:c.418-9G>C , LRG_727t1:c.418-9G>C	NP_001244917.1:n.418-9G>C
NM_001257989.1:c.418-9G>C , LRG_727t2:c.418-9G>C	NP_001244918.1:n.418-9G>C
NM_001953.4:c.418-9G>C	NP_001944.1:n.418-9G>C
NM_001113755.3:c.418-9G>C	NP_001107227.1:n.418-9G>C
NM_001113756.3:c.418-9G>C	NP_001107228.1:n.418-9G>C
NM_001953.5:c.418-9G>C MANE Select	NP_001944.1:n.418-9G>C