Canonical Allele Identifier: CA412199033

Gene: TYMP

Linked Data

• MyVariant Identifiers: chr22:g.50965075C>G (hg19) ; chr22:g.50526646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526646C>G , CM000684.2:g.50526646C>G	GRCh38
NC_000022.10:g.50965075C>G , CM000684.1:g.50965075C>G	GRCh37
NC_000022.9:g.49311941C>G	NCBI36
NG_011860.1:g.8440G>C , LRG_727:g.8440G>C
NG_016235.1:g.4794G>C
NG_021419.1:g.23431C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.858G>C MANE Select	ENSP00000252029.3:p.Glu286Asp
ENST00000395680.6:c.858G>C	ENSP00000379037.1:p.Glu286Asp
ENST00000395681.6:c.858G>C	ENSP00000379038.1:p.Glu286Asp
ENST00000650719.1:c.739G>C	ENSP00000498276.1:p.Gly247Arg
ENST00000651401.1:c.342G>C	ENSP00000499115.1:p.Glu114Asp
ENST00000652401.1:c.359G>C
ENST00000252029.7:c.858G>C	ENSP00000252029.3:p.Glu286Asp
ENST00000395678.7:c.858G>C	ENSP00000379036.3:p.Glu286Asp
ENST00000395680.5:c.858G>C	ENSP00000379037.1:p.Glu286Asp
ENST00000395681.5:c.858G>C	ENSP00000379038.1:p.Glu286Asp
ENST00000425169.1:c.759G>C	ENSP00000395875.1:p.Glu253Asp
ENST00000476284.1:n.864G>C
ENST00000487577.5:n.1145G>C
NM_001113755.2:c.858G>C	NP_001107227.1:p.Glu286Asp
NM_001113756.2:c.858G>C	NP_001107228.1:p.Glu286Asp
NM_001257988.1:c.858G>C , LRG_727t1:c.858G>C	NP_001244917.1:p.Glu286Asp
NM_001257989.1:c.858G>C , LRG_727t2:c.858G>C	NP_001244918.1:p.Glu286Asp
NM_001953.4:c.858G>C	NP_001944.1:p.Glu286Asp
NM_001113755.3:c.858G>C	NP_001107227.1:p.Glu286Asp
NM_001113756.3:c.858G>C	NP_001107228.1:p.Glu286Asp
NM_001953.5:c.858G>C MANE Select	NP_001944.1:p.Glu286Asp