Canonical Allele Identifier: CA515387947

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2995805
• ClinVar RCV Id: RCV003853892
• dbSNP Id: rs1402392115
• gnomAD v4: 22-50526667-G-A
• MyVariant Identifiers: chr22:g.50965096G>A (hg19) ; chr22:g.50526667G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526667G>A , CM000684.2:g.50526667G>A	GRCh38
NC_000022.10:g.50965096G>A , CM000684.1:g.50965096G>A	GRCh37
NC_000022.9:g.49311962G>A	NCBI36
NG_011860.1:g.8419C>T , LRG_727:g.8419C>T
NG_016235.1:g.4773C>T
NG_021419.1:g.23452G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.837C>T MANE Select	ENSP00000252029.3:p.Arg279=
ENST00000395680.6:c.837C>T	ENSP00000379037.1:p.Arg279=
ENST00000395681.6:c.837C>T	ENSP00000379038.1:p.Arg279=
ENST00000650719.1:c.718C>T	ENSP00000498276.1:p.Leu240=
ENST00000651401.1:c.321C>T	ENSP00000499115.1:p.Arg107=
ENST00000652401.1:c.338C>T
ENST00000252029.7:c.837C>T	ENSP00000252029.3:p.Arg279=
ENST00000395678.7:c.837C>T	ENSP00000379036.3:p.Arg279=
ENST00000395680.5:c.837C>T	ENSP00000379037.1:p.Arg279=
ENST00000395681.5:c.837C>T	ENSP00000379038.1:p.Arg279=
ENST00000425169.1:c.738C>T	ENSP00000395875.1:p.Arg246=
ENST00000476284.1:n.843C>T
ENST00000487577.5:n.1124C>T
NM_001113755.2:c.837C>T	NP_001107227.1:p.Arg279=
NM_001113756.2:c.837C>T	NP_001107228.1:p.Arg279=
NM_001257988.1:c.837C>T , LRG_727t1:c.837C>T	NP_001244917.1:p.Arg279=
NM_001257989.1:c.837C>T , LRG_727t2:c.837C>T	NP_001244918.1:p.Arg279=
NM_001953.4:c.837C>T	NP_001944.1:p.Arg279=
NM_001113755.3:c.837C>T	NP_001107227.1:p.Arg279=
NM_001113756.3:c.837C>T	NP_001107228.1:p.Arg279=
NM_001953.5:c.837C>T MANE Select	NP_001944.1:p.Arg279=