Canonical Allele Identifier: CA983694694

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037058007
• gnomAD v3: 17-40628651-A-C
• gnomAD v4: 17-40628651-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628651A>C , CM000679.2:g.40628651A>C	GRCh38
NC_000017.10:g.38784903A>C , CM000679.1:g.38784903A>C	GRCh37
NC_000017.9:g.36038429A>C	NCBI36
NG_032163.1:g.24201T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*932T>G	ENSP00000466608.2:n.*932T>G
ENST00000348513.12:c.*134T>G MANE Select	ENSP00000323967.6:n.*134T>G
ENST00000377808.9:c.*357T>G	ENSP00000367039.4:n.*357T>G
ENST00000400122.8:c.*357T>G	ENSP00000411607.2:n.*357T>G
ENST00000469334.6:n.1968T>G
ENST00000578112.6:c.*1167T>G	ENSP00000464501.1:n.*1167T>G
ENST00000580419.6:c.*349T>G	ENSP00000462475.2:n.*349T>G
ENST00000642576.1:n.2513T>G
ENST00000643030.1:n.1993T>G
ENST00000643255.1:c.*3434T>G	ENSP00000493957.1:n.*3434T>G
ENST00000643318.1:c.*134T>G	ENSP00000494771.1:n.*134T>G
ENST00000643378.1:n.1925T>G
ENST00000643683.1:c.*134T>G	ENSP00000496094.1:n.*134T>G
ENST00000643893.1:n.1663T>G
ENST00000644443.1:n.3258T>G
ENST00000644523.1:n.1416T>G
ENST00000644527.1:c.*134T>G	ENSP00000493974.1:n.*134T>G
ENST00000644701.1:c.*357T>G	ENSP00000496097.1:n.*357T>G
ENST00000644909.1:c.*639T>G	ENSP00000493649.1:n.*639T>G
ENST00000645152.1:n.2033T>G
ENST00000645227.1:c.*1058T>G	ENSP00000495021.1:n.*1058T>G
ENST00000646242.1:n.7282T>G
ENST00000646283.1:c.*134T>G	ENSP00000494537.1:n.*134T>G
ENST00000646401.1:n.2736T>G
ENST00000646856.1:c.*1246T>G	ENSP00000494505.1:n.*1246T>G
ENST00000647294.1:c.*1300T>G	ENSP00000494815.1:n.*1300T>G
ENST00000647508.1:c.*134T>G	ENSP00000496445.1:n.*134T>G
ENST00000647515.1:c.*901T>G	ENSP00000495857.1:n.*901T>G
ENST00000348513.10:c.*134T>G	ENSP00000323967.6:n.*134T>G
ENST00000431889.6:c.*134T>G	ENSP00000445370.1:n.*134T>G
ENST00000469334.5:n.1957T>G
ENST00000578112.5:c.*1167T>G	ENSP00000464501.1:n.*1167T>G
NM_003079.4:c.*134T>G	NP_003070.3:n.*134T>G
NM_003079.5:c.*134T>G MANE Select	NP_003070.3:n.*134T>G