Canonical Allele Identifier: CA2259640532

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628851C= , CM000679.2:g.40628851C=	GRCh38
NC_000017.10:g.38785103C= , CM000679.1:g.38785103C=	GRCh37
NC_000017.9:g.36038629C=	NCBI36
NG_032163.1:g.24001G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*732G=	ENSP00000466608.2:n.*732G=
ENST00000348513.12:c.1170G= MANE Select	ENSP00000323967.6:p.Glu390=
ENST00000377808.9:c.*157G=	ENSP00000367039.4:n.*157G=
ENST00000400122.8:c.*157G=	ENSP00000411607.2:n.*157G=
ENST00000469334.6:n.1768G=
ENST00000578044.6:c.960G=	ENSP00000464511.1:p.Glu320=
ENST00000578112.6:c.*967G=	ENSP00000464501.1:n.*967G=
ENST00000580419.6:c.*149G=	ENSP00000462475.2:n.*149G=
ENST00000642576.1:n.2313G=
ENST00000643030.1:n.1793G=
ENST00000643255.1:c.*3234G=	ENSP00000493957.1:n.*3234G=
ENST00000643318.1:c.960G=	ENSP00000494771.1:p.Glu320=
ENST00000643378.1:n.1725G=
ENST00000643683.1:c.1170G=	ENSP00000496094.1:p.Glu390=
ENST00000643893.1:n.1463G=
ENST00000644443.1:n.3058G=
ENST00000644523.1:n.1216G=
ENST00000644527.1:c.942G=	ENSP00000493974.1:p.Glu314=
ENST00000644701.1:c.*157G=	ENSP00000496097.1:n.*157G=
ENST00000644909.1:c.*439G=	ENSP00000493649.1:n.*439G=
ENST00000645152.1:n.1833G=
ENST00000645227.1:c.*858G=	ENSP00000495021.1:n.*858G=
ENST00000646242.1:n.7082G=
ENST00000646283.1:c.978G=	ENSP00000494537.1:p.Glu326=
ENST00000646401.1:n.2536G=
ENST00000646448.1:n.2444G=
ENST00000646856.1:c.*1046G=	ENSP00000494505.1:n.*1046G=
ENST00000647294.1:c.*1100G=	ENSP00000494815.1:n.*1100G=
ENST00000647508.1:c.1065G=	ENSP00000496445.1:p.Glu355=
ENST00000647515.1:c.*701G=	ENSP00000495857.1:n.*701G=
ENST00000348513.10:c.1170G=	ENSP00000323967.6:p.Glu390=
ENST00000377808.8:c.*157G=	ENSP00000367039.4:n.*157G=
ENST00000400122.7:c.*157G=	ENSP00000411607.2:n.*157G=
ENST00000431889.6:c.1116G=	ENSP00000445370.1:p.Glu372=
ENST00000469334.5:n.1757G=
ENST00000476049.1:c.*1518G=	ENSP00000463483.1:n.*1518G=
ENST00000578044.5:c.960G=	ENSP00000464511.1:p.Glu320=
ENST00000578112.5:c.*967G=	ENSP00000464501.1:n.*967G=
ENST00000580419.5:c.1065G=	ENSP00000462475.1:p.Glu355=
NM_003079.4:c.1170G=	NP_003070.3:p.Glu390=
NM_003079.5:c.1170G= MANE Select	NP_003070.3:p.Glu390=