Canonical Allele Identifier: CA626211880

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1474553832
• gnomAD v2: 17-38784997-A-AT
• gnomAD v3: 17-40628745-A-AT
• gnomAD v4: 17-40628745-A-AT
• MyVariant Identifiers: chr17:g.38784997_38784998insT (hg19) ; chr17:g.40628745_40628746insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628747dup , CM000679.2:g.40628747dup	GRCh38
NC_000017.10:g.38784999dup , CM000679.1:g.38784999dup	GRCh37
NC_000017.9:g.36038525dup	NCBI36
NG_032163.1:g.24106dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*837dup	ENSP00000466608.2:n.*837dup
ENST00000348513.12:c.*39dup MANE Select	ENSP00000323967.6:n.*39dup
ENST00000377808.9:c.*262dup	ENSP00000367039.4:n.*262dup
ENST00000400122.8:c.*262dup	ENSP00000411607.2:n.*262dup
ENST00000469334.6:n.1873dup
ENST00000578112.6:c.*1072dup	ENSP00000464501.1:n.*1072dup
ENST00000580419.6:c.*254dup	ENSP00000462475.2:n.*254dup
ENST00000642576.1:n.2418dup
ENST00000643030.1:n.1898dup
ENST00000643255.1:c.*3339dup	ENSP00000493957.1:n.*3339dup
ENST00000643318.1:c.*39dup	ENSP00000494771.1:n.*39dup
ENST00000643378.1:n.1830dup
ENST00000643683.1:c.*39dup	ENSP00000496094.1:n.*39dup
ENST00000643893.1:n.1568dup
ENST00000644443.1:n.3163dup
ENST00000644523.1:n.1321dup
ENST00000644527.1:c.*39dup	ENSP00000493974.1:n.*39dup
ENST00000644701.1:c.*262dup	ENSP00000496097.1:n.*262dup
ENST00000644909.1:c.*544dup	ENSP00000493649.1:n.*544dup
ENST00000645152.1:n.1938dup
ENST00000645227.1:c.*963dup	ENSP00000495021.1:n.*963dup
ENST00000646242.1:n.7187dup
ENST00000646283.1:c.*39dup	ENSP00000494537.1:n.*39dup
ENST00000646401.1:n.2641dup
ENST00000646856.1:c.*1151dup	ENSP00000494505.1:n.*1151dup
ENST00000647294.1:c.*1205dup	ENSP00000494815.1:n.*1205dup
ENST00000647508.1:c.*39dup	ENSP00000496445.1:n.*39dup
ENST00000647515.1:c.*806dup	ENSP00000495857.1:n.*806dup
ENST00000348513.10:c.*39dup	ENSP00000323967.6:n.*39dup
ENST00000431889.6:c.*39dup	ENSP00000445370.1:n.*39dup
ENST00000469334.5:n.1862dup
ENST00000578112.5:c.*1072dup	ENSP00000464501.1:n.*1072dup
NM_003079.4:c.*39dup	NP_003070.3:n.*39dup
NM_003079.5:c.*39dup MANE Select	NP_003070.3:n.*39dup