Canonical Allele Identifier: CA412202190

Gene: TYMP

Linked Data

• ClinVar Variation Id: 1691348
• ClinVar RCV Id: RCV002254446
• dbSNP Id: rs2148682826
• gnomAD v4: 22-50529275-T-A
• MyVariant Identifiers: chr22:g.50967704T>A (hg19) ; chr22:g.50529275T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529275T>A , CM000684.2:g.50529275T>A	GRCh38
NC_000022.10:g.50967704T>A , CM000684.1:g.50967704T>A	GRCh37
NC_000022.9:g.49314570T>A	NCBI36
NG_011860.1:g.5811A>T , LRG_727:g.5811A>T
NG_016235.1:g.2165A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.278A>T MANE Select	ENSP00000252029.3:p.Gln93Leu
ENST00000395680.6:c.278A>T	ENSP00000379037.1:p.Gln93Leu
ENST00000395681.6:c.278A>T	ENSP00000379038.1:p.Gln93Leu
ENST00000650719.1:c.278A>T	ENSP00000498276.1:p.Gln93Leu
ENST00000651095.1:n.417A>T
ENST00000651196.1:c.278A>T	ENSP00000499096.1:p.Gln93Leu
ENST00000651401.1:c.-1+629A>T	ENSP00000499115.1:n.-1+629A>T
ENST00000651906.1:n.397A>T
ENST00000652237.1:n.554A>T
ENST00000652352.1:c.26A>T	ENSP00000498579.1:p.Gln9Leu
ENST00000252029.7:c.278A>T	ENSP00000252029.3:p.Gln93Leu
ENST00000395678.7:c.278A>T	ENSP00000379036.3:p.Gln93Leu
ENST00000395680.5:c.278A>T	ENSP00000379037.1:p.Gln93Leu
ENST00000395681.5:c.278A>T	ENSP00000379038.1:p.Gln93Leu
ENST00000425169.1:c.278A>T	ENSP00000395875.1:p.Gln93Leu
ENST00000476284.1:n.403A>T
ENST00000487162.1:n.566A>T
ENST00000487577.5:n.565A>T
NM_001113755.2:c.278A>T	NP_001107227.1:p.Gln93Leu
NM_001113756.2:c.278A>T	NP_001107228.1:p.Gln93Leu
NM_001257988.1:c.278A>T , LRG_727t1:c.278A>T	NP_001244917.1:p.Gln93Leu
NM_001257989.1:c.278A>T , LRG_727t2:c.278A>T	NP_001244918.1:p.Gln93Leu
NM_001953.4:c.278A>T	NP_001944.1:p.Gln93Leu
NM_001113755.3:c.278A>T	NP_001107227.1:p.Gln93Leu
NM_001113756.3:c.278A>T	NP_001107228.1:p.Gln93Leu
NM_001953.5:c.278A>T MANE Select	NP_001944.1:p.Gln93Leu