Canonical Allele Identifier: CA10321872

Gene: TYMP

Linked Data

• ClinVar Variation Id: 2796720
• ClinVar RCV Id: RCV003670774
• dbSNP Id: rs776247639
• ExAC: 22:50967992 C / T
• gnomAD v2: 22-50967992-C-T
• MyVariant Identifiers: chr22:g.50967992C>T (hg19) ; chr22:g.50529563C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529563C>T , CM000684.2:g.50529563C>T	GRCh38
NC_000022.10:g.50967992C>T , CM000684.1:g.50967992C>T	GRCh37
NC_000022.9:g.49314858C>T	NCBI36
NG_011860.1:g.5523G>A , LRG_727:g.5523G>A
NG_016235.1:g.1877G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.147G>A MANE Select	ENSP00000252029.3:p.Leu49=
ENST00000395680.6:c.147G>A	ENSP00000379037.1:p.Leu49=
ENST00000395681.6:c.147G>A	ENSP00000379038.1:p.Leu49=
ENST00000650719.1:c.147G>A	ENSP00000498276.1:p.Leu49=
ENST00000651095.1:n.286G>A
ENST00000651196.1:c.147G>A	ENSP00000499096.1:p.Leu49=
ENST00000651401.1:c.-1+341G>A	ENSP00000499115.1:n.-1+341G>A
ENST00000651906.1:n.266G>A
ENST00000652237.1:n.266G>A
ENST00000252029.7:c.147G>A	ENSP00000252029.3:p.Leu49=
ENST00000395678.7:c.147G>A	ENSP00000379036.3:p.Leu49=
ENST00000395680.5:c.147G>A	ENSP00000379037.1:p.Leu49=
ENST00000395681.5:c.147G>A	ENSP00000379038.1:p.Leu49=
ENST00000425169.1:c.147G>A	ENSP00000395875.1:p.Leu49=
ENST00000476284.1:n.272G>A
ENST00000487162.1:n.278G>A
ENST00000487577.5:n.434G>A
NM_001113755.2:c.147G>A	NP_001107227.1:p.Leu49=
NM_001113756.2:c.147G>A	NP_001107228.1:p.Leu49=
NM_001257988.1:c.147G>A , LRG_727t1:c.147G>A	NP_001244917.1:p.Leu49=
NM_001257989.1:c.147G>A , LRG_727t2:c.147G>A	NP_001244918.1:p.Leu49=
NM_001953.4:c.147G>A	NP_001944.1:p.Leu49=
NM_001113755.3:c.147G>A	NP_001107227.1:p.Leu49=
NM_001113756.3:c.147G>A	NP_001107228.1:p.Leu49=
NM_001953.5:c.147G>A MANE Select	NP_001944.1:p.Leu49=