Canonical Allele Identifier: CA2637750133

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628644-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628644G>C , CM000679.2:g.40628644G>C	GRCh38
NC_000017.10:g.38784896G>C , CM000679.1:g.38784896G>C	GRCh37
NC_000017.9:g.36038422G>C	NCBI36
NG_032163.1:g.24208C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*939C>G	ENSP00000466608.2:n.*939C>G
ENST00000348513.12:c.*141C>G MANE Select	ENSP00000323967.6:n.*141C>G
ENST00000377808.9:c.*364C>G	ENSP00000367039.4:n.*364C>G
ENST00000400122.8:c.*364C>G	ENSP00000411607.2:n.*364C>G
ENST00000469334.6:n.1975C>G
ENST00000578112.6:c.*1174C>G	ENSP00000464501.1:n.*1174C>G
ENST00000580419.6:c.*356C>G	ENSP00000462475.2:n.*356C>G
ENST00000642576.1:n.2520C>G
ENST00000643030.1:n.2000C>G
ENST00000643255.1:c.*3441C>G	ENSP00000493957.1:n.*3441C>G
ENST00000643318.1:c.*141C>G	ENSP00000494771.1:n.*141C>G
ENST00000643378.1:n.1932C>G
ENST00000643683.1:c.*141C>G	ENSP00000496094.1:n.*141C>G
ENST00000643893.1:n.1670C>G
ENST00000644443.1:n.3265C>G
ENST00000644523.1:n.1423C>G
ENST00000644527.1:c.*141C>G	ENSP00000493974.1:n.*141C>G
ENST00000644701.1:c.*364C>G	ENSP00000496097.1:n.*364C>G
ENST00000644909.1:c.*646C>G	ENSP00000493649.1:n.*646C>G
ENST00000645152.1:n.2040C>G
ENST00000645227.1:c.*1065C>G	ENSP00000495021.1:n.*1065C>G
ENST00000646242.1:n.7289C>G
ENST00000646283.1:c.*141C>G	ENSP00000494537.1:n.*141C>G
ENST00000646401.1:n.2743C>G
ENST00000646856.1:c.*1253C>G	ENSP00000494505.1:n.*1253C>G
ENST00000647294.1:c.*1307C>G	ENSP00000494815.1:n.*1307C>G
ENST00000647508.1:c.*141C>G	ENSP00000496445.1:n.*141C>G
ENST00000647515.1:c.*908C>G	ENSP00000495857.1:n.*908C>G
ENST00000348513.10:c.*141C>G	ENSP00000323967.6:n.*141C>G
ENST00000431889.6:c.*141C>G	ENSP00000445370.1:n.*141C>G
ENST00000469334.5:n.1964C>G
ENST00000578112.5:c.*1174C>G	ENSP00000464501.1:n.*1174C>G
NM_003079.4:c.*141C>G	NP_003070.3:n.*141C>G
NM_003079.5:c.*141C>G MANE Select	NP_003070.3:n.*141C>G