Canonical Allele Identifier: CA515275688

Gene: TYMP

Linked Data

• dbSNP Id: rs2069501065
• gnomAD v3: 22-50529235-C-T
• gnomAD v4: 22-50529235-C-T
• MyVariant Identifiers: chr22:g.50967664C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529235C>T , CM000684.2:g.50529235C>T	GRCh38
NC_000022.10:g.50967664C>T , CM000684.1:g.50967664C>T	GRCh37
NC_000022.9:g.49314530C>T	NCBI36
NG_011860.1:g.5851G>A , LRG_727:g.5851G>A
NG_016235.1:g.2205G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.318G>A MANE Select	ENSP00000252029.3:p.Glu106=
ENST00000395680.6:c.318G>A	ENSP00000379037.1:p.Glu106=
ENST00000395681.6:c.318G>A	ENSP00000379038.1:p.Glu106=
ENST00000650719.1:c.318G>A	ENSP00000498276.1:p.Glu106=
ENST00000651095.1:n.457G>A
ENST00000651196.1:c.318G>A	ENSP00000499096.1:p.Glu106=
ENST00000651401.1:c.-1+669G>A	ENSP00000499115.1:n.-1+669G>A
ENST00000651906.1:n.437G>A
ENST00000652237.1:n.594G>A
ENST00000652352.1:c.66G>A	ENSP00000498579.1:p.Glu22=
ENST00000252029.7:c.318G>A	ENSP00000252029.3:p.Glu106=
ENST00000395678.7:c.318G>A	ENSP00000379036.3:p.Glu106=
ENST00000395680.5:c.318G>A	ENSP00000379037.1:p.Glu106=
ENST00000395681.5:c.318G>A	ENSP00000379038.1:p.Glu106=
ENST00000425169.1:c.318G>A	ENSP00000395875.1:p.Glu106=
ENST00000476284.1:n.443G>A
ENST00000487162.1:n.606G>A
ENST00000487577.5:n.605G>A
NM_001113755.2:c.318G>A	NP_001107227.1:p.Glu106=
NM_001113756.2:c.318G>A	NP_001107228.1:p.Glu106=
NM_001257988.1:c.318G>A , LRG_727t1:c.318G>A	NP_001244917.1:p.Glu106=
NM_001257989.1:c.318G>A , LRG_727t2:c.318G>A	NP_001244918.1:p.Glu106=
NM_001953.4:c.318G>A	NP_001944.1:p.Glu106=
NM_001113755.3:c.318G>A	NP_001107227.1:p.Glu106=
NM_001113756.3:c.318G>A	NP_001107228.1:p.Glu106=
NM_001953.5:c.318G>A MANE Select	NP_001944.1:p.Glu106=