Canonical Allele Identifier: CA412198591

Gene: TYMP

Linked Data

• MyVariant Identifiers: chr22:g.50965016A>G (hg19) ; chr22:g.50526587A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526587A>G , CM000684.2:g.50526587A>G	GRCh38
NC_000022.10:g.50965016A>G , CM000684.1:g.50965016A>G	GRCh37
NC_000022.9:g.49311882A>G	NCBI36
NG_011860.1:g.8499T>C , LRG_727:g.8499T>C
NG_016235.1:g.4853T>C
NG_021419.1:g.23372A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.917T>C MANE Select	ENSP00000252029.3:p.Val306Ala
ENST00000395680.6:c.917T>C	ENSP00000379037.1:p.Val306Ala
ENST00000395681.6:c.917T>C	ENSP00000379038.1:p.Val306Ala
ENST00000650719.1:c.798T>C	ENSP00000498276.1:p.Gly266=
ENST00000651401.1:c.401T>C	ENSP00000499115.1:p.Val134Ala
ENST00000652401.1:c.418T>C
ENST00000252029.7:c.917T>C	ENSP00000252029.3:p.Val306Ala
ENST00000395678.7:c.917T>C	ENSP00000379036.3:p.Val306Ala
ENST00000395680.5:c.917T>C	ENSP00000379037.1:p.Val306Ala
ENST00000395681.5:c.917T>C	ENSP00000379038.1:p.Val306Ala
ENST00000425169.1:c.818T>C	ENSP00000395875.1:p.Val273Ala
ENST00000476284.1:n.923T>C
ENST00000487577.5:n.1204T>C
NM_001113755.2:c.917T>C	NP_001107227.1:p.Val306Ala
NM_001113756.2:c.917T>C	NP_001107228.1:p.Val306Ala
NM_001257988.1:c.917T>C , LRG_727t1:c.917T>C	NP_001244917.1:p.Val306Ala
NM_001257989.1:c.917T>C , LRG_727t2:c.917T>C	NP_001244918.1:p.Val306Ala
NM_001953.4:c.917T>C	NP_001944.1:p.Val306Ala
NM_001113755.3:c.917T>C	NP_001107227.1:p.Val306Ala
NM_001113756.3:c.917T>C	NP_001107228.1:p.Val306Ala
NM_001953.5:c.917T>C MANE Select	NP_001944.1:p.Val306Ala