Canonical Allele Identifier: CA2259640468

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037058900
• gnomAD v4: 17-40628729-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628735dup , CM000679.2:g.40628735dup	GRCh38
NC_000017.10:g.38784987dup , CM000679.1:g.38784987dup	GRCh37
NC_000017.9:g.36038513dup	NCBI36
NG_032163.1:g.24122dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*853dup	ENSP00000466608.2:n.*853dup
ENST00000348513.12:c.*55dup MANE Select	ENSP00000323967.6:n.*55dup
ENST00000377808.9:c.*278dup	ENSP00000367039.4:n.*278dup
ENST00000400122.8:c.*278dup	ENSP00000411607.2:n.*278dup
ENST00000469334.6:n.1889dup
ENST00000578112.6:c.*1088dup	ENSP00000464501.1:n.*1088dup
ENST00000580419.6:c.*270dup	ENSP00000462475.2:n.*270dup
ENST00000642576.1:n.2434dup
ENST00000643030.1:n.1914dup
ENST00000643255.1:c.*3355dup	ENSP00000493957.1:n.*3355dup
ENST00000643318.1:c.*55dup	ENSP00000494771.1:n.*55dup
ENST00000643378.1:n.1846dup
ENST00000643683.1:c.*55dup	ENSP00000496094.1:n.*55dup
ENST00000643893.1:n.1584dup
ENST00000644443.1:n.3179dup
ENST00000644523.1:n.1337dup
ENST00000644527.1:c.*55dup	ENSP00000493974.1:n.*55dup
ENST00000644701.1:c.*278dup	ENSP00000496097.1:n.*278dup
ENST00000644909.1:c.*560dup	ENSP00000493649.1:n.*560dup
ENST00000645152.1:n.1954dup
ENST00000645227.1:c.*979dup	ENSP00000495021.1:n.*979dup
ENST00000646242.1:n.7203dup
ENST00000646283.1:c.*55dup	ENSP00000494537.1:n.*55dup
ENST00000646401.1:n.2657dup
ENST00000646856.1:c.*1167dup	ENSP00000494505.1:n.*1167dup
ENST00000647294.1:c.*1221dup	ENSP00000494815.1:n.*1221dup
ENST00000647508.1:c.*55dup	ENSP00000496445.1:n.*55dup
ENST00000647515.1:c.*822dup	ENSP00000495857.1:n.*822dup
ENST00000348513.10:c.*55dup	ENSP00000323967.6:n.*55dup
ENST00000431889.6:c.*55dup	ENSP00000445370.1:n.*55dup
ENST00000469334.5:n.1878dup
ENST00000578112.5:c.*1088dup	ENSP00000464501.1:n.*1088dup
NM_003079.4:c.*55dup	NP_003070.3:n.*55dup
NM_003079.5:c.*55dup MANE Select	NP_003070.3:n.*55dup