Canonical Allele Identifier: CA983694691

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037057492
• gnomAD v3: 17-40628554-T-C
• gnomAD v4: 17-40628554-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628554T>C , CM000679.2:g.40628554T>C	GRCh38
NC_000017.10:g.38784806T>C , CM000679.1:g.38784806T>C	GRCh37
NC_000017.9:g.36038332T>C	NCBI36
NG_032163.1:g.24298A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1029A>G	ENSP00000466608.2:n.*1029A>G
ENST00000348513.12:c.*231A>G MANE Select	ENSP00000323967.6:n.*231A>G
ENST00000377808.9:c.*454A>G	ENSP00000367039.4:n.*454A>G
ENST00000400122.8:c.*454A>G	ENSP00000411607.2:n.*454A>G
ENST00000469334.6:n.2065A>G
ENST00000578112.6:c.*1264A>G	ENSP00000464501.1:n.*1264A>G
ENST00000580419.6:c.*446A>G	ENSP00000462475.2:n.*446A>G
ENST00000642576.1:n.2610A>G
ENST00000643030.1:n.2090A>G
ENST00000643255.1:c.*3531A>G	ENSP00000493957.1:n.*3531A>G
ENST00000643318.1:c.*231A>G	ENSP00000494771.1:n.*231A>G
ENST00000643378.1:n.2022A>G
ENST00000643683.1:c.*231A>G	ENSP00000496094.1:n.*231A>G
ENST00000643893.1:n.1760A>G
ENST00000644443.1:n.3355A>G
ENST00000644523.1:n.1513A>G
ENST00000644527.1:c.*231A>G	ENSP00000493974.1:n.*231A>G
ENST00000644701.1:c.*454A>G	ENSP00000496097.1:n.*454A>G
ENST00000644909.1:c.*736A>G	ENSP00000493649.1:n.*736A>G
ENST00000645152.1:n.2130A>G
ENST00000645227.1:c.*1155A>G	ENSP00000495021.1:n.*1155A>G
ENST00000646242.1:n.7379A>G
ENST00000646283.1:c.*231A>G	ENSP00000494537.1:n.*231A>G
ENST00000646401.1:n.2833A>G
ENST00000646856.1:c.*1343A>G	ENSP00000494505.1:n.*1343A>G
ENST00000647294.1:c.*1397A>G	ENSP00000494815.1:n.*1397A>G
ENST00000647508.1:c.*231A>G	ENSP00000496445.1:n.*231A>G
ENST00000647515.1:c.*998A>G	ENSP00000495857.1:n.*998A>G
ENST00000348513.10:c.*231A>G	ENSP00000323967.6:n.*231A>G
ENST00000431889.6:c.*231A>G	ENSP00000445370.1:n.*231A>G
ENST00000469334.5:n.2054A>G
ENST00000578112.5:c.*1264A>G	ENSP00000464501.1:n.*1264A>G
NM_003079.4:c.*231A>G	NP_003070.3:n.*231A>G
NM_003079.5:c.*231A>G MANE Select	NP_003070.3:n.*231A>G