Canonical Allele Identifier: CA2259640366

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037056699
• gnomAD v4: 17-40628440-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628441dup , CM000679.2:g.40628441dup	GRCh38
NC_000017.10:g.38784693dup , CM000679.1:g.38784693dup	GRCh37
NC_000017.9:g.36038219dup	NCBI36
NG_032163.1:g.24411dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1142dup	ENSP00000466608.2:n.*1142dup
ENST00000348513.12:c.*344dup MANE Select	ENSP00000323967.6:n.*344dup
ENST00000377808.9:c.*567dup	ENSP00000367039.4:n.*567dup
ENST00000400122.8:c.*567dup	ENSP00000411607.2:n.*567dup
ENST00000469334.6:n.2178dup
ENST00000578112.6:c.*1377dup	ENSP00000464501.1:n.*1377dup
ENST00000580419.6:c.*559dup	ENSP00000462475.2:n.*559dup
ENST00000642576.1:n.2723dup
ENST00000643030.1:n.2203dup
ENST00000643255.1:c.*3644dup	ENSP00000493957.1:n.*3644dup
ENST00000643318.1:c.*344dup	ENSP00000494771.1:n.*344dup
ENST00000643378.1:n.2135dup
ENST00000643683.1:c.*344dup	ENSP00000496094.1:n.*344dup
ENST00000643893.1:n.1873dup
ENST00000644443.1:n.3468dup
ENST00000644523.1:n.1626dup
ENST00000644527.1:c.*344dup	ENSP00000493974.1:n.*344dup
ENST00000644701.1:c.*567dup	ENSP00000496097.1:n.*567dup
ENST00000644909.1:c.*849dup	ENSP00000493649.1:n.*849dup
ENST00000645152.1:n.2243dup
ENST00000645227.1:c.*1268dup	ENSP00000495021.1:n.*1268dup
ENST00000646242.1:n.7492dup
ENST00000646283.1:c.*344dup	ENSP00000494537.1:n.*344dup
ENST00000646401.1:n.2946dup
ENST00000646856.1:c.*1456dup	ENSP00000494505.1:n.*1456dup
ENST00000647294.1:c.*1510dup	ENSP00000494815.1:n.*1510dup
ENST00000647508.1:c.*344dup	ENSP00000496445.1:n.*344dup
ENST00000647515.1:c.*1111dup	ENSP00000495857.1:n.*1111dup
ENST00000348513.10:c.*344dup	ENSP00000323967.6:n.*344dup
ENST00000578112.5:c.*1377dup	ENSP00000464501.1:n.*1377dup
NM_003079.4:c.*344dup	NP_003070.3:n.*344dup
NM_003079.5:c.*344dup MANE Select	NP_003070.3:n.*344dup