Canonical Allele Identifier: CA2410907774

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526293A= , CM000684.2:g.50526293A=	GRCh38
NC_000022.10:g.50964722A= , CM000684.1:g.50964722A=	GRCh37
NC_000022.9:g.49311588A=	NCBI36
NG_011860.1:g.8793T= , LRG_727:g.8793T=
NG_016235.1:g.5147T=
NG_021419.1:g.23078A=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1112T= (TYMP) MANE Select	ENSP00000252029.3:p.Leu371=
ENST00000395680.6:c.1112T= (TYMP)	ENSP00000379037.1:p.Leu371=
ENST00000395681.6:c.1112T= (TYMP)	ENSP00000379038.1:p.Leu371=
ENST00000543927.6:c.-61T= (SCO2)	ENSP00000444433.1:n.-61T=
ENST00000651490.1:c.45T= (TYMP)
ENST00000652401.1:c.613T= (TYMP)
ENST00000252029.7:c.1112T= (TYMP)	ENSP00000252029.3:p.Leu371=
ENST00000395678.7:c.1112T= (TYMP)	ENSP00000379036.3:p.Leu371=
ENST00000395680.5:c.1112T= (TYMP)	ENSP00000379037.1:p.Leu371=
ENST00000395681.5:c.1112T= (TYMP)	ENSP00000379038.1:p.Leu371=
ENST00000423348.1:c.-61T=	ENSP00000403570.1:n.-61T=
ENST00000425169.1:c.1013T= (TYMP)	ENSP00000395875.1:p.Leu338=
ENST00000476284.1:n.1118T= (TYMP)
ENST00000487577.5:n.1399T= (TYMP)
ENST00000543927.5:c.-61T=	ENSP00000444433.1:n.-61T=
NM_001113755.2:c.1112T= (TYMP)	NP_001107227.1:p.Leu371=
NM_001113756.2:c.1112T= (TYMP)	NP_001107228.1:p.Leu371=
NM_001169109.1:c.-61T= (SCO2)	NP_001162580.1:n.-61T=
NM_001257988.1:c.1112T= , LRG_727t1:c.1112T= (TYMP)	NP_001244917.1:p.Leu371=
NM_001257989.1:c.1112T= , LRG_727t2:c.1112T= (TYMP)	NP_001244918.1:p.Leu371=
NM_001953.4:c.1112T= (TYMP)	NP_001944.1:p.Leu371=
NM_001113755.3:c.1112T= (TYMP)	NP_001107227.1:p.Leu371=
NM_001113756.3:c.1112T= (TYMP)	NP_001107228.1:p.Leu371=
NM_001953.5:c.1112T= (TYMP) MANE Select	NP_001944.1:p.Leu371=
NM_001169109.2:c.-61T= (SCO2)	NP_001162580.1:n.-61T=