Canonical Allele Identifier: CA291570

Gene: TYMP

Linked Data

• ClinVar Variation Id: 137873
• ClinVar RCV Id: RCV000126199 ; RCV000348879 ; RCV000402916 ; RCV000406103 ; RCV000676462 ; RCV001276277
• dbSNP Id: rs8141558
• ExAC: 22:50965102 C / T
• gnomAD v2: 22-50965102-C-T
• gnomAD v3: 22-50526673-C-T
• gnomAD v4: 22-50526673-C-T
• MyVariant Identifiers: chr22:g.50965102C>T (hg19) ; chr22:g.50526673C>T (hg38)
• PubMed: PMID:20301358

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526673C>T , CM000684.2:g.50526673C>T	GRCh38
NC_000022.10:g.50965102C>T , CM000684.1:g.50965102C>T	GRCh37
NC_000022.9:g.49311968C>T	NCBI36
NG_011860.1:g.8413G>A , LRG_727:g.8413G>A
NG_016235.1:g.4767G>A
NG_021419.1:g.23458C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.831G>A MANE Select	ENSP00000252029.3:p.Leu277=
ENST00000395680.6:c.831G>A	ENSP00000379037.1:p.Leu277=
ENST00000395681.6:c.831G>A	ENSP00000379038.1:p.Leu277=
ENST00000650719.1:c.712G>A	ENSP00000498276.1:p.Gly238Arg
ENST00000651401.1:c.315G>A	ENSP00000499115.1:p.Leu105=
ENST00000652401.1:c.332G>A
ENST00000252029.7:c.831G>A	ENSP00000252029.3:p.Leu277=
ENST00000395678.7:c.831G>A	ENSP00000379036.3:p.Leu277=
ENST00000395680.5:c.831G>A	ENSP00000379037.1:p.Leu277=
ENST00000395681.5:c.831G>A	ENSP00000379038.1:p.Leu277=
ENST00000425169.1:c.732G>A	ENSP00000395875.1:p.Leu244=
ENST00000476284.1:n.837G>A
ENST00000487577.5:n.1118G>A
NM_001113755.2:c.831G>A	NP_001107227.1:p.Leu277=
NM_001113756.2:c.831G>A	NP_001107228.1:p.Leu277=
NM_001257988.1:c.831G>A , LRG_727t1:c.831G>A	NP_001244917.1:p.Leu277=
NM_001257989.1:c.831G>A , LRG_727t2:c.831G>A	NP_001244918.1:p.Leu277=
NM_001953.4:c.831G>A	NP_001944.1:p.Leu277=
NM_001113755.3:c.831G>A	NP_001107227.1:p.Leu277=
NM_001113756.3:c.831G>A	NP_001107228.1:p.Leu277=
NM_001953.5:c.831G>A MANE Select	NP_001944.1:p.Leu277=