Canonical Allele Identifier: CA412201941

Gene: TYMP

Linked Data

• MyVariant Identifiers: chr22:g.50967585G>C (hg19) ; chr22:g.50529156G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529156G>C , CM000684.2:g.50529156G>C	GRCh38
NC_000022.10:g.50967585G>C , CM000684.1:g.50967585G>C	GRCh37
NC_000022.9:g.49314451G>C	NCBI36
NG_011860.1:g.5930C>G , LRG_727:g.5930C>G
NG_016235.1:g.2284C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.397C>G MANE Select	ENSP00000252029.3:p.Leu133Val
ENST00000395680.6:c.397C>G	ENSP00000379037.1:p.Leu133Val
ENST00000395681.6:c.397C>G	ENSP00000379038.1:p.Leu133Val
ENST00000650719.1:c.397C>G	ENSP00000498276.1:p.Leu133Val
ENST00000651095.1:n.536C>G
ENST00000651196.1:c.397C>G	ENSP00000499096.1:p.Leu133Val
ENST00000651401.1:c.-1+748C>G	ENSP00000499115.1:n.-1+748C>G
ENST00000651906.1:n.516C>G
ENST00000652237.1:n.673C>G
ENST00000652352.1:c.145C>G	ENSP00000498579.1:p.Leu49Val
ENST00000252029.7:c.397C>G	ENSP00000252029.3:p.Leu133Val
ENST00000395678.7:c.397C>G	ENSP00000379036.3:p.Leu133Val
ENST00000395680.5:c.397C>G	ENSP00000379037.1:p.Leu133Val
ENST00000395681.5:c.397C>G	ENSP00000379038.1:p.Leu133Val
ENST00000425169.1:c.397C>G	ENSP00000395875.1:p.Leu133Val
ENST00000476284.1:n.522C>G
ENST00000487162.1:n.685C>G
ENST00000487577.5:n.684C>G
NM_001113755.2:c.397C>G	NP_001107227.1:p.Leu133Val
NM_001113756.2:c.397C>G	NP_001107228.1:p.Leu133Val
NM_001257988.1:c.397C>G , LRG_727t1:c.397C>G	NP_001244917.1:p.Leu133Val
NM_001257989.1:c.397C>G , LRG_727t2:c.397C>G	NP_001244918.1:p.Leu133Val
NM_001953.4:c.397C>G	NP_001944.1:p.Leu133Val
NM_001113755.3:c.397C>G	NP_001107227.1:p.Leu133Val
NM_001113756.3:c.397C>G	NP_001107228.1:p.Leu133Val
NM_001953.5:c.397C>G MANE Select	NP_001944.1:p.Leu133Val