Canonical Allele Identifier: CA412201960

Gene: TYMP

Linked Data

• MyVariant Identifiers: chr22:g.50967596A>C (hg19) ; chr22:g.50529167A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529167A>C , CM000684.2:g.50529167A>C	GRCh38
NC_000022.10:g.50967596A>C , CM000684.1:g.50967596A>C	GRCh37
NC_000022.9:g.49314462A>C	NCBI36
NG_011860.1:g.5919T>G , LRG_727:g.5919T>G
NG_016235.1:g.2273T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.386T>G MANE Select	ENSP00000252029.3:p.Leu129Arg
ENST00000395680.6:c.386T>G	ENSP00000379037.1:p.Leu129Arg
ENST00000395681.6:c.386T>G	ENSP00000379038.1:p.Leu129Arg
ENST00000650719.1:c.386T>G	ENSP00000498276.1:p.Leu129Arg
ENST00000651095.1:n.525T>G
ENST00000651196.1:c.386T>G	ENSP00000499096.1:p.Leu129Arg
ENST00000651401.1:c.-1+737T>G	ENSP00000499115.1:n.-1+737T>G
ENST00000651906.1:n.505T>G
ENST00000652237.1:n.662T>G
ENST00000652352.1:c.134T>G	ENSP00000498579.1:p.Leu45Arg
ENST00000252029.7:c.386T>G	ENSP00000252029.3:p.Leu129Arg
ENST00000395678.7:c.386T>G	ENSP00000379036.3:p.Leu129Arg
ENST00000395680.5:c.386T>G	ENSP00000379037.1:p.Leu129Arg
ENST00000395681.5:c.386T>G	ENSP00000379038.1:p.Leu129Arg
ENST00000425169.1:c.386T>G	ENSP00000395875.1:p.Leu129Arg
ENST00000476284.1:n.511T>G
ENST00000487162.1:n.674T>G
ENST00000487577.5:n.673T>G
NM_001113755.2:c.386T>G	NP_001107227.1:p.Leu129Arg
NM_001113756.2:c.386T>G	NP_001107228.1:p.Leu129Arg
NM_001257988.1:c.386T>G , LRG_727t1:c.386T>G	NP_001244917.1:p.Leu129Arg
NM_001257989.1:c.386T>G , LRG_727t2:c.386T>G	NP_001244918.1:p.Leu129Arg
NM_001953.4:c.386T>G	NP_001944.1:p.Leu129Arg
NM_001113755.3:c.386T>G	NP_001107227.1:p.Leu129Arg
NM_001113756.3:c.386T>G	NP_001107228.1:p.Leu129Arg
NM_001953.5:c.386T>G MANE Select	NP_001944.1:p.Leu129Arg