Canonical Allele Identifier: CA412198304

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526460C>T , CM000684.2:g.50526460C>T	GRCh38
NC_000022.10:g.50964889C>T , CM000684.1:g.50964889C>T	GRCh37
NC_000022.9:g.49311755C>T	NCBI36
NG_011860.1:g.8626G>A , LRG_727:g.8626G>A
NG_016235.1:g.4980G>A
NG_021419.1:g.23245C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001953.5:c.945G>A (TYMP) MANE Select	NP_001944.1:p.Trp315Ter
ENST00000252029.8:c.945G>A (TYMP) MANE Select	ENSP00000252029.3:p.Trp315Ter
NM_001113755.2:c.945G>A (TYMP)	NP_001107227.1:p.Trp315Ter
NM_001113755.3:c.945G>A (TYMP)	NP_001107227.1:p.Trp315Ter
NM_001113756.2:c.945G>A (TYMP)	NP_001107228.1:p.Trp315Ter
NM_001113756.3:c.945G>A (TYMP)	NP_001107228.1:p.Trp315Ter
NM_001257988.1:c.945G>A , LRG_727t1:c.945G>A (TYMP)	NP_001244917.1:p.Trp315Ter
NM_001257989.1:c.945G>A , LRG_727t2:c.945G>A (TYMP)	NP_001244918.1:p.Trp315Ter
NM_001953.4:c.945G>A (TYMP)	NP_001944.1:p.Trp315Ter
ENST00000252029.7:c.945G>A (TYMP)	ENSP00000252029.3:p.Trp315Ter
ENST00000395678.7:c.945G>A (TYMP)	ENSP00000379036.3:p.Trp315Ter
ENST00000395680.5:c.945G>A (TYMP)	ENSP00000379037.1:p.Trp315Ter
ENST00000395680.6:c.945G>A (TYMP)	ENSP00000379037.1:p.Trp315Ter
ENST00000395681.5:c.945G>A (TYMP)	ENSP00000379038.1:p.Trp315Ter
ENST00000395681.6:c.945G>A (TYMP)	ENSP00000379038.1:p.Trp315Ter
ENST00000425169.1:c.846G>A (TYMP)	ENSP00000395875.1:p.Trp282Ter
ENST00000476284.1:n.951G>A (TYMP)
ENST00000487577.5:n.1232G>A (TYMP)
ENST00000543927.6:c.-228G>A (SCO2)	ENSP00000444433.1:n.-228G>A
ENST00000650719.1:c.826G>A (TYMP)	ENSP00000498276.1:p.Ala276Thr
ENST00000651401.1:c.429G>A (TYMP)	ENSP00000499115.1:p.Trp143Ter
ENST00000652401.1:c.446G>A (TYMP)