Canonical Allele Identifier: CA10321807

Gene: TYMP

Linked Data

• dbSNP Id: rs772318219
• ExAC: 22:50967728 A / G
• MyVariant Identifiers: chr22:g.50967728A>G (hg19) ; chr22:g.50529299A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50529299A>G , CM000684.2:g.50529299A>G	GRCh38
NC_000022.10:g.50967728A>G , CM000684.1:g.50967728A>G	GRCh37
NC_000022.9:g.49314594A>G	NCBI36
NG_011860.1:g.5787T>C , LRG_727:g.5787T>C
NG_016235.1:g.2141T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000252029.8:c.254T>C MANE Select	ENSP00000252029.3:p.Leu85Pro
ENST00000395680.6:c.254T>C	ENSP00000379037.1:p.Leu85Pro
ENST00000395681.6:c.254T>C	ENSP00000379038.1:p.Leu85Pro
ENST00000650719.1:c.254T>C	ENSP00000498276.1:p.Leu85Pro
ENST00000651095.1:n.393T>C
ENST00000651196.1:c.254T>C	ENSP00000499096.1:p.Leu85Pro
ENST00000651401.1:c.-1+605T>C	ENSP00000499115.1:n.-1+605T>C
ENST00000651906.1:n.373T>C
ENST00000652237.1:n.530T>C
ENST00000652352.1:c.2T>C	ENSP00000498579.1:p.Leu1Pro
ENST00000252029.7:c.254T>C	ENSP00000252029.3:p.Leu85Pro
ENST00000395678.7:c.254T>C	ENSP00000379036.3:p.Leu85Pro
ENST00000395680.5:c.254T>C	ENSP00000379037.1:p.Leu85Pro
ENST00000395681.5:c.254T>C	ENSP00000379038.1:p.Leu85Pro
ENST00000425169.1:c.254T>C	ENSP00000395875.1:p.Leu85Pro
ENST00000476284.1:n.379T>C
ENST00000487162.1:n.542T>C
ENST00000487577.5:n.541T>C
NM_001113755.2:c.254T>C	NP_001107227.1:p.Leu85Pro
NM_001113756.2:c.254T>C	NP_001107228.1:p.Leu85Pro
NM_001257988.1:c.254T>C , LRG_727t1:c.254T>C	NP_001244917.1:p.Leu85Pro
NM_001257989.1:c.254T>C , LRG_727t2:c.254T>C	NP_001244918.1:p.Leu85Pro
NM_001953.4:c.254T>C	NP_001944.1:p.Leu85Pro
NM_001113755.3:c.254T>C	NP_001107227.1:p.Leu85Pro
NM_001113756.3:c.254T>C	NP_001107228.1:p.Leu85Pro
NM_001953.5:c.254T>C MANE Select	NP_001944.1:p.Leu85Pro