Canonical Allele Identifier: CA290547154

Gene: SMARCE1

Linked Data

• dbSNP Id: rs975452157
• gnomAD v3: 17-40628392-T-C
• gnomAD v4: 17-40628392-T-C
• MyVariant Identifiers: chr17:g.38784644T>C (hg19) ; chr17:g.40628392T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628392T>C , CM000679.2:g.40628392T>C	GRCh38
NC_000017.10:g.38784644T>C , CM000679.1:g.38784644T>C	GRCh37
NC_000017.9:g.36038170T>C	NCBI36
NG_032163.1:g.24460A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1191A>G	ENSP00000466608.2:n.*1191A>G
ENST00000348513.12:c.*393A>G MANE Select	ENSP00000323967.6:n.*393A>G
ENST00000377808.9:c.*616A>G	ENSP00000367039.4:n.*616A>G
ENST00000400122.8:c.*616A>G	ENSP00000411607.2:n.*616A>G
ENST00000469334.6:n.2227A>G
ENST00000578112.6:c.*1426A>G	ENSP00000464501.1:n.*1426A>G
ENST00000580419.6:c.*608A>G	ENSP00000462475.2:n.*608A>G
ENST00000642576.1:n.2772A>G
ENST00000643030.1:n.2252A>G
ENST00000643255.1:c.*3693A>G	ENSP00000493957.1:n.*3693A>G
ENST00000643318.1:c.*393A>G	ENSP00000494771.1:n.*393A>G
ENST00000643378.1:n.2184A>G
ENST00000643683.1:c.*393A>G	ENSP00000496094.1:n.*393A>G
ENST00000643893.1:n.1922A>G
ENST00000644443.1:n.3517A>G
ENST00000644523.1:n.1675A>G
ENST00000644527.1:c.*393A>G	ENSP00000493974.1:n.*393A>G
ENST00000644701.1:c.*616A>G	ENSP00000496097.1:n.*616A>G
ENST00000644909.1:c.*898A>G	ENSP00000493649.1:n.*898A>G
ENST00000645152.1:n.2292A>G
ENST00000645227.1:c.*1317A>G	ENSP00000495021.1:n.*1317A>G
ENST00000646242.1:n.7541A>G
ENST00000646283.1:c.*393A>G	ENSP00000494537.1:n.*393A>G
ENST00000646401.1:n.2995A>G
ENST00000646856.1:c.*1505A>G	ENSP00000494505.1:n.*1505A>G
ENST00000647294.1:c.*1559A>G	ENSP00000494815.1:n.*1559A>G
ENST00000647508.1:c.*393A>G	ENSP00000496445.1:n.*393A>G
ENST00000647515.1:c.*1160A>G	ENSP00000495857.1:n.*1160A>G
ENST00000348513.10:c.*393A>G	ENSP00000323967.6:n.*393A>G
ENST00000578112.5:c.*1426A>G	ENSP00000464501.1:n.*1426A>G
NM_003079.4:c.*393A>G	NP_003070.3:n.*393A>G
NM_003079.5:c.*393A>G MANE Select	NP_003070.3:n.*393A>G