Canonical Allele Identifier: CA290547267

Gene: SMARCE1

Linked Data

• dbSNP Id: rs900907001
• gnomAD v2: 17-38784879-T-C
• gnomAD v3: 17-40628627-T-C
• gnomAD v4: 17-40628627-T-C
• MyVariant Identifiers: chr17:g.38784879T>C (hg19) ; chr17:g.40628627T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628627T>C , CM000679.2:g.40628627T>C	GRCh38
NC_000017.10:g.38784879T>C , CM000679.1:g.38784879T>C	GRCh37
NC_000017.9:g.36038405T>C	NCBI36
NG_032163.1:g.24225A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*956A>G	ENSP00000466608.2:n.*956A>G
ENST00000348513.12:c.*158A>G MANE Select	ENSP00000323967.6:n.*158A>G
ENST00000377808.9:c.*381A>G	ENSP00000367039.4:n.*381A>G
ENST00000400122.8:c.*381A>G	ENSP00000411607.2:n.*381A>G
ENST00000469334.6:n.1992A>G
ENST00000578112.6:c.*1191A>G	ENSP00000464501.1:n.*1191A>G
ENST00000580419.6:c.*373A>G	ENSP00000462475.2:n.*373A>G
ENST00000642576.1:n.2537A>G
ENST00000643030.1:n.2017A>G
ENST00000643255.1:c.*3458A>G	ENSP00000493957.1:n.*3458A>G
ENST00000643318.1:c.*158A>G	ENSP00000494771.1:n.*158A>G
ENST00000643378.1:n.1949A>G
ENST00000643683.1:c.*158A>G	ENSP00000496094.1:n.*158A>G
ENST00000643893.1:n.1687A>G
ENST00000644443.1:n.3282A>G
ENST00000644523.1:n.1440A>G
ENST00000644527.1:c.*158A>G	ENSP00000493974.1:n.*158A>G
ENST00000644701.1:c.*381A>G	ENSP00000496097.1:n.*381A>G
ENST00000644909.1:c.*663A>G	ENSP00000493649.1:n.*663A>G
ENST00000645152.1:n.2057A>G
ENST00000645227.1:c.*1082A>G	ENSP00000495021.1:n.*1082A>G
ENST00000646242.1:n.7306A>G
ENST00000646283.1:c.*158A>G	ENSP00000494537.1:n.*158A>G
ENST00000646401.1:n.2760A>G
ENST00000646856.1:c.*1270A>G	ENSP00000494505.1:n.*1270A>G
ENST00000647294.1:c.*1324A>G	ENSP00000494815.1:n.*1324A>G
ENST00000647508.1:c.*158A>G	ENSP00000496445.1:n.*158A>G
ENST00000647515.1:c.*925A>G	ENSP00000495857.1:n.*925A>G
ENST00000348513.10:c.*158A>G	ENSP00000323967.6:n.*158A>G
ENST00000431889.6:c.*158A>G	ENSP00000445370.1:n.*158A>G
ENST00000469334.5:n.1981A>G
ENST00000578112.5:c.*1191A>G	ENSP00000464501.1:n.*1191A>G
NM_003079.4:c.*158A>G	NP_003070.3:n.*158A>G
NM_003079.5:c.*158A>G MANE Select	NP_003070.3:n.*158A>G