Canonical Allele Identifier: CA2410907772

Gene: TYMP SCO2

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.50526289C= , CM000684.2:g.50526289C=	GRCh38
NC_000022.10:g.50964718C= , CM000684.1:g.50964718C=	GRCh37
NC_000022.9:g.49311584C=	NCBI36
NG_011860.1:g.8797G= , LRG_727:g.8797G=
NG_016235.1:g.5151G=
NG_021419.1:g.23074C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000252029.8:c.1116G= (TYMP) MANE Select	ENSP00000252029.3:p.Leu372=
ENST00000395680.6:c.1116G= (TYMP)	ENSP00000379037.1:p.Leu372=
ENST00000395681.6:c.1116G= (TYMP)	ENSP00000379038.1:p.Leu372=
ENST00000543927.6:c.-57G= (SCO2)	ENSP00000444433.1:n.-57G=
ENST00000651490.1:c.49G= (TYMP)
ENST00000652401.1:c.617G= (TYMP)
ENST00000252029.7:c.1116G= (TYMP)	ENSP00000252029.3:p.Leu372=
ENST00000395678.7:c.1116G= (TYMP)	ENSP00000379036.3:p.Leu372=
ENST00000395680.5:c.1116G= (TYMP)	ENSP00000379037.1:p.Leu372=
ENST00000395681.5:c.1116G= (TYMP)	ENSP00000379038.1:p.Leu372=
ENST00000423348.1:c.-57G=	ENSP00000403570.1:n.-57G=
ENST00000425169.1:c.1017G= (TYMP)	ENSP00000395875.1:p.Leu339=
ENST00000476284.1:n.1122G= (TYMP)
ENST00000487577.5:n.1403G= (TYMP)
ENST00000543927.5:c.-57G=	ENSP00000444433.1:n.-57G=
NM_001113755.2:c.1116G= (TYMP)	NP_001107227.1:p.Leu372=
NM_001113756.2:c.1116G= (TYMP)	NP_001107228.1:p.Leu372=
NM_001169109.1:c.-57G= (SCO2)	NP_001162580.1:n.-57G=
NM_001257988.1:c.1116G= , LRG_727t1:c.1116G= (TYMP)	NP_001244917.1:p.Leu372=
NM_001257989.1:c.1116G= , LRG_727t2:c.1116G= (TYMP)	NP_001244918.1:p.Leu372=
NM_001953.4:c.1116G= (TYMP)	NP_001944.1:p.Leu372=
NM_001113755.3:c.1116G= (TYMP)	NP_001107227.1:p.Leu372=
NM_001113756.3:c.1116G= (TYMP)	NP_001107228.1:p.Leu372=
NM_001953.5:c.1116G= (TYMP) MANE Select	NP_001944.1:p.Leu372=
NM_001169109.2:c.-57G= (SCO2)	NP_001162580.1:n.-57G=