Canonical Allele Identifier: CA2259640365

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628440G= , CM000679.2:g.40628440G=	GRCh38
NC_000017.10:g.38784692G= , CM000679.1:g.38784692G=	GRCh37
NC_000017.9:g.36038218G=	NCBI36
NG_032163.1:g.24412C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1143C=	ENSP00000466608.2:n.*1143C=
ENST00000348513.12:c.*345C= MANE Select	ENSP00000323967.6:n.*345C=
ENST00000377808.9:c.*568C=	ENSP00000367039.4:n.*568C=
ENST00000400122.8:c.*568C=	ENSP00000411607.2:n.*568C=
ENST00000469334.6:n.2179C=
ENST00000578112.6:c.*1378C=	ENSP00000464501.1:n.*1378C=
ENST00000580419.6:c.*560C=	ENSP00000462475.2:n.*560C=
ENST00000642576.1:n.2724C=
ENST00000643030.1:n.2204C=
ENST00000643255.1:c.*3645C=	ENSP00000493957.1:n.*3645C=
ENST00000643318.1:c.*345C=	ENSP00000494771.1:n.*345C=
ENST00000643378.1:n.2136C=
ENST00000643683.1:c.*345C=	ENSP00000496094.1:n.*345C=
ENST00000643893.1:n.1874C=
ENST00000644443.1:n.3469C=
ENST00000644523.1:n.1627C=
ENST00000644527.1:c.*345C=	ENSP00000493974.1:n.*345C=
ENST00000644701.1:c.*568C=	ENSP00000496097.1:n.*568C=
ENST00000644909.1:c.*850C=	ENSP00000493649.1:n.*850C=
ENST00000645152.1:n.2244C=
ENST00000645227.1:c.*1269C=	ENSP00000495021.1:n.*1269C=
ENST00000646242.1:n.7493C=
ENST00000646283.1:c.*345C=	ENSP00000494537.1:n.*345C=
ENST00000646401.1:n.2947C=
ENST00000646856.1:c.*1457C=	ENSP00000494505.1:n.*1457C=
ENST00000647294.1:c.*1511C=	ENSP00000494815.1:n.*1511C=
ENST00000647508.1:c.*345C=	ENSP00000496445.1:n.*345C=
ENST00000647515.1:c.*1112C=	ENSP00000495857.1:n.*1112C=
ENST00000348513.10:c.*345C=	ENSP00000323967.6:n.*345C=
ENST00000578112.5:c.*1378C=	ENSP00000464501.1:n.*1378C=
NM_003079.4:c.*345C=	NP_003070.3:n.*345C=
NM_003079.5:c.*345C= MANE Select	NP_003070.3:n.*345C=