Canonical Allele Identifier: CA2809468878

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628571G>C , CM000679.2:g.40628571G>C	GRCh38
NC_000017.10:g.38784823G>C , CM000679.1:g.38784823G>C	GRCh37
NC_000017.9:g.36038349G>C	NCBI36
NG_032163.1:g.24281C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1012C>G	ENSP00000466608.2:n.*1012C>G
ENST00000348513.12:c.*214C>G MANE Select	ENSP00000323967.6:n.*214C>G
ENST00000377808.9:c.*437C>G	ENSP00000367039.4:n.*437C>G
ENST00000400122.8:c.*437C>G	ENSP00000411607.2:n.*437C>G
ENST00000469334.6:n.2048C>G
ENST00000578112.6:c.*1247C>G	ENSP00000464501.1:n.*1247C>G
ENST00000580419.6:c.*429C>G	ENSP00000462475.2:n.*429C>G
ENST00000642576.1:n.2593C>G
ENST00000643030.1:n.2073C>G
ENST00000643255.1:c.*3514C>G	ENSP00000493957.1:n.*3514C>G
ENST00000643318.1:c.*214C>G	ENSP00000494771.1:n.*214C>G
ENST00000643378.1:n.2005C>G
ENST00000643683.1:c.*214C>G	ENSP00000496094.1:n.*214C>G
ENST00000643893.1:n.1743C>G
ENST00000644443.1:n.3338C>G
ENST00000644523.1:n.1496C>G
ENST00000644527.1:c.*214C>G	ENSP00000493974.1:n.*214C>G
ENST00000644701.1:c.*437C>G	ENSP00000496097.1:n.*437C>G
ENST00000644909.1:c.*719C>G	ENSP00000493649.1:n.*719C>G
ENST00000645152.1:n.2113C>G
ENST00000645227.1:c.*1138C>G	ENSP00000495021.1:n.*1138C>G
ENST00000646242.1:n.7362C>G
ENST00000646283.1:c.*214C>G	ENSP00000494537.1:n.*214C>G
ENST00000646401.1:n.2816C>G
ENST00000646856.1:c.*1326C>G	ENSP00000494505.1:n.*1326C>G
ENST00000647294.1:c.*1380C>G	ENSP00000494815.1:n.*1380C>G
ENST00000647508.1:c.*214C>G	ENSP00000496445.1:n.*214C>G
ENST00000647515.1:c.*981C>G	ENSP00000495857.1:n.*981C>G
ENST00000348513.10:c.*214C>G	ENSP00000323967.6:n.*214C>G
ENST00000431889.6:c.*214C>G	ENSP00000445370.1:n.*214C>G
ENST00000469334.5:n.2037C>G
ENST00000578112.5:c.*1247C>G	ENSP00000464501.1:n.*1247C>G
NM_003079.4:c.*214C>G	NP_003070.3:n.*214C>G
NM_003079.5:c.*214C>G MANE Select	NP_003070.3:n.*214C>G