Canonical Allele Identifier: CA515387679

Gene: TYMP

Linked Data

• gnomAD v4: 22-50526577-G-T
• MyVariant Identifiers: chr22:g.50965006G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526577G>T , CM000684.2:g.50526577G>T	GRCh38
NC_000022.10:g.50965006G>T , CM000684.1:g.50965006G>T	GRCh37
NC_000022.9:g.49311872G>T	NCBI36
NG_011860.1:g.8509C>A , LRG_727:g.8509C>A
NG_016235.1:g.4863C>A
NG_021419.1:g.23362G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.927C>A MANE Select	ENSP00000252029.3:p.Leu309=
ENST00000395680.6:c.927C>A	ENSP00000379037.1:p.Leu309=
ENST00000395681.6:c.927C>A	ENSP00000379038.1:p.Leu309=
ENST00000650719.1:c.808C>A	ENSP00000498276.1:p.Arg270=
ENST00000651401.1:c.411C>A	ENSP00000499115.1:p.Leu137=
ENST00000652401.1:c.428C>A
ENST00000252029.7:c.927C>A	ENSP00000252029.3:p.Leu309=
ENST00000395678.7:c.927C>A	ENSP00000379036.3:p.Leu309=
ENST00000395680.5:c.927C>A	ENSP00000379037.1:p.Leu309=
ENST00000395681.5:c.927C>A	ENSP00000379038.1:p.Leu309=
ENST00000425169.1:c.828C>A	ENSP00000395875.1:p.Leu276=
ENST00000476284.1:n.933C>A
ENST00000487577.5:n.1214C>A
NM_001113755.2:c.927C>A	NP_001107227.1:p.Leu309=
NM_001113756.2:c.927C>A	NP_001107228.1:p.Leu309=
NM_001257988.1:c.927C>A , LRG_727t1:c.927C>A	NP_001244917.1:p.Leu309=
NM_001257989.1:c.927C>A , LRG_727t2:c.927C>A	NP_001244918.1:p.Leu309=
NM_001953.4:c.927C>A	NP_001944.1:p.Leu309=
NM_001113755.3:c.927C>A	NP_001107227.1:p.Leu309=
NM_001113756.3:c.927C>A	NP_001107228.1:p.Leu309=
NM_001953.5:c.927C>A MANE Select	NP_001944.1:p.Leu309=