Canonical Allele Identifier: CA325565183

Gene: TYMP

Linked Data

• ClinVar Variation Id: 726582
• ClinVar RCV Id: RCV000900816 ; RCV001273318
• dbSNP Id: rs747718279
• gnomAD v2: 22-50967580-C-G
• gnomAD v3: 22-50529151-C-G
• gnomAD v4: 22-50529151-C-G
• MyVariant Identifiers: chr22:g.50967580C>G (hg19) ; chr22:g.50529151C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529151C>G , CM000684.2:g.50529151C>G	GRCh38
NC_000022.10:g.50967580C>G , CM000684.1:g.50967580C>G	GRCh37
NC_000022.9:g.49314446C>G	NCBI36
NG_011860.1:g.5935G>C , LRG_727:g.5935G>C
NG_016235.1:g.2289G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.402G>C MANE Select	ENSP00000252029.3:p.Ala134=
ENST00000395680.6:c.402G>C	ENSP00000379037.1:p.Ala134=
ENST00000395681.6:c.402G>C	ENSP00000379038.1:p.Ala134=
ENST00000650719.1:c.402G>C	ENSP00000498276.1:p.Ala134=
ENST00000651095.1:n.541G>C
ENST00000651196.1:c.402G>C	ENSP00000499096.1:p.Ala134=
ENST00000651401.1:c.-1+753G>C	ENSP00000499115.1:n.-1+753G>C
ENST00000651906.1:n.521G>C
ENST00000652237.1:n.678G>C
ENST00000652352.1:c.150G>C	ENSP00000498579.1:p.Ala50=
ENST00000252029.7:c.402G>C	ENSP00000252029.3:p.Ala134=
ENST00000395678.7:c.402G>C	ENSP00000379036.3:p.Ala134=
ENST00000395680.5:c.402G>C	ENSP00000379037.1:p.Ala134=
ENST00000395681.5:c.402G>C	ENSP00000379038.1:p.Ala134=
ENST00000425169.1:c.402G>C	ENSP00000395875.1:p.Ala134=
ENST00000476284.1:n.527G>C
ENST00000487162.1:n.690G>C
ENST00000487577.5:n.689G>C
NM_001113755.2:c.402G>C	NP_001107227.1:p.Ala134=
NM_001113756.2:c.402G>C	NP_001107228.1:p.Ala134=
NM_001257988.1:c.402G>C , LRG_727t1:c.402G>C	NP_001244917.1:p.Ala134=
NM_001257989.1:c.402G>C , LRG_727t2:c.402G>C	NP_001244918.1:p.Ala134=
NM_001953.4:c.402G>C	NP_001944.1:p.Ala134=
NM_001113755.3:c.402G>C	NP_001107227.1:p.Ala134=
NM_001113756.3:c.402G>C	NP_001107228.1:p.Ala134=
NM_001953.5:c.402G>C MANE Select	NP_001944.1:p.Ala134=