Canonical Allele Identifier: CA2637750219

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628747-T-TA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628754dup , CM000679.2:g.40628754dup	GRCh38
NC_000017.10:g.38785006dup , CM000679.1:g.38785006dup	GRCh37
NC_000017.9:g.36038532dup	NCBI36
NG_032163.1:g.24104dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*835dup	ENSP00000466608.2:n.*835dup
ENST00000348513.12:c.*37dup MANE Select	ENSP00000323967.6:n.*37dup
ENST00000377808.9:c.*260dup	ENSP00000367039.4:n.*260dup
ENST00000400122.8:c.*260dup	ENSP00000411607.2:n.*260dup
ENST00000469334.6:n.1871dup
ENST00000578112.6:c.*1070dup	ENSP00000464501.1:n.*1070dup
ENST00000580419.6:c.*252dup	ENSP00000462475.2:n.*252dup
ENST00000642576.1:n.2416dup
ENST00000643030.1:n.1896dup
ENST00000643255.1:c.*3337dup	ENSP00000493957.1:n.*3337dup
ENST00000643318.1:c.*37dup	ENSP00000494771.1:n.*37dup
ENST00000643378.1:n.1828dup
ENST00000643683.1:c.*37dup	ENSP00000496094.1:n.*37dup
ENST00000643893.1:n.1566dup
ENST00000644443.1:n.3161dup
ENST00000644523.1:n.1319dup
ENST00000644527.1:c.*37dup	ENSP00000493974.1:n.*37dup
ENST00000644701.1:c.*260dup	ENSP00000496097.1:n.*260dup
ENST00000644909.1:c.*542dup	ENSP00000493649.1:n.*542dup
ENST00000645152.1:n.1936dup
ENST00000645227.1:c.*961dup	ENSP00000495021.1:n.*961dup
ENST00000646242.1:n.7185dup
ENST00000646283.1:c.*37dup	ENSP00000494537.1:n.*37dup
ENST00000646401.1:n.2639dup
ENST00000646856.1:c.*1149dup	ENSP00000494505.1:n.*1149dup
ENST00000647294.1:c.*1203dup	ENSP00000494815.1:n.*1203dup
ENST00000647508.1:c.*37dup	ENSP00000496445.1:n.*37dup
ENST00000647515.1:c.*804dup	ENSP00000495857.1:n.*804dup
ENST00000348513.10:c.*37dup	ENSP00000323967.6:n.*37dup
ENST00000431889.6:c.*37dup	ENSP00000445370.1:n.*37dup
ENST00000469334.5:n.1860dup
ENST00000578112.5:c.*1070dup	ENSP00000464501.1:n.*1070dup
NM_003079.4:c.*37dup	NP_003070.3:n.*37dup
NM_003079.5:c.*37dup MANE Select	NP_003070.3:n.*37dup