Canonical Allele Identifier: CA515275676

Gene: TYMP

Linked Data

• gnomAD v4: 22-50529214-C-G
• MyVariant Identifiers: chr22:g.50967643C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529214C>G , CM000684.2:g.50529214C>G	GRCh38
NC_000022.10:g.50967643C>G , CM000684.1:g.50967643C>G	GRCh37
NC_000022.9:g.49314509C>G	NCBI36
NG_011860.1:g.5872G>C , LRG_727:g.5872G>C
NG_016235.1:g.2226G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.339G>C MANE Select	ENSP00000252029.3:p.Val113=
ENST00000395680.6:c.339G>C	ENSP00000379037.1:p.Val113=
ENST00000395681.6:c.339G>C	ENSP00000379038.1:p.Val113=
ENST00000650719.1:c.339G>C	ENSP00000498276.1:p.Val113=
ENST00000651095.1:n.478G>C
ENST00000651196.1:c.339G>C	ENSP00000499096.1:p.Val113=
ENST00000651401.1:c.-1+690G>C	ENSP00000499115.1:n.-1+690G>C
ENST00000651906.1:n.458G>C
ENST00000652237.1:n.615G>C
ENST00000652352.1:c.87G>C	ENSP00000498579.1:p.Val29=
ENST00000252029.7:c.339G>C	ENSP00000252029.3:p.Val113=
ENST00000395678.7:c.339G>C	ENSP00000379036.3:p.Val113=
ENST00000395680.5:c.339G>C	ENSP00000379037.1:p.Val113=
ENST00000395681.5:c.339G>C	ENSP00000379038.1:p.Val113=
ENST00000425169.1:c.339G>C	ENSP00000395875.1:p.Val113=
ENST00000476284.1:n.464G>C
ENST00000487162.1:n.627G>C
ENST00000487577.5:n.626G>C
NM_001113755.2:c.339G>C	NP_001107227.1:p.Val113=
NM_001113756.2:c.339G>C	NP_001107228.1:p.Val113=
NM_001257988.1:c.339G>C , LRG_727t1:c.339G>C	NP_001244917.1:p.Val113=
NM_001257989.1:c.339G>C , LRG_727t2:c.339G>C	NP_001244918.1:p.Val113=
NM_001953.4:c.339G>C	NP_001944.1:p.Val113=
NM_001113755.3:c.339G>C	NP_001107227.1:p.Val113=
NM_001113756.3:c.339G>C	NP_001107228.1:p.Val113=
NM_001953.5:c.339G>C MANE Select	NP_001944.1:p.Val113=