Canonical Allele Identifier: CA290547452

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 3012367
• ClinVar RCV Id: RCV003875494
• dbSNP Id: rs982006343
• gnomAD v4: 17-40628846-T-C
• MyVariant Identifiers: chr17:g.38785098T>C (hg19) ; chr17:g.40628846T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628846T>C , CM000679.2:g.40628846T>C	GRCh38
NC_000017.10:g.38785098T>C , CM000679.1:g.38785098T>C	GRCh37
NC_000017.9:g.36038624T>C	NCBI36
NG_032163.1:g.24006A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*737A>G	ENSP00000466608.2:n.*737A>G
ENST00000348513.12:c.1175A>G MANE Select	ENSP00000323967.6:p.Asn392Ser
ENST00000377808.9:c.*162A>G	ENSP00000367039.4:n.*162A>G
ENST00000400122.8:c.*162A>G	ENSP00000411607.2:n.*162A>G
ENST00000469334.6:n.1773A>G
ENST00000578044.6:c.965A>G	ENSP00000464511.1:p.Asn322Ser
ENST00000578112.6:c.*972A>G	ENSP00000464501.1:n.*972A>G
ENST00000580419.6:c.*154A>G	ENSP00000462475.2:n.*154A>G
ENST00000642576.1:n.2318A>G
ENST00000643030.1:n.1798A>G
ENST00000643255.1:c.*3239A>G	ENSP00000493957.1:n.*3239A>G
ENST00000643318.1:c.965A>G	ENSP00000494771.1:p.Asn322Ser
ENST00000643378.1:n.1730A>G
ENST00000643683.1:c.1175A>G	ENSP00000496094.1:p.Asn392Ser
ENST00000643893.1:n.1468A>G
ENST00000644443.1:n.3063A>G
ENST00000644523.1:n.1221A>G
ENST00000644527.1:c.947A>G	ENSP00000493974.1:p.Asn316Ser
ENST00000644701.1:c.*162A>G	ENSP00000496097.1:n.*162A>G
ENST00000644909.1:c.*444A>G	ENSP00000493649.1:n.*444A>G
ENST00000645152.1:n.1838A>G
ENST00000645227.1:c.*863A>G	ENSP00000495021.1:n.*863A>G
ENST00000646242.1:n.7087A>G
ENST00000646283.1:c.983A>G	ENSP00000494537.1:p.Asn328Ser
ENST00000646401.1:n.2541A>G
ENST00000646448.1:n.2449A>G
ENST00000646856.1:c.*1051A>G	ENSP00000494505.1:n.*1051A>G
ENST00000647294.1:c.*1105A>G	ENSP00000494815.1:n.*1105A>G
ENST00000647508.1:c.1070A>G	ENSP00000496445.1:p.Asn357Ser
ENST00000647515.1:c.*706A>G	ENSP00000495857.1:n.*706A>G
ENST00000348513.10:c.1175A>G	ENSP00000323967.6:p.Asn392Ser
ENST00000377808.8:c.*162A>G	ENSP00000367039.4:n.*162A>G
ENST00000400122.7:c.*162A>G	ENSP00000411607.2:n.*162A>G
ENST00000431889.6:c.1121A>G	ENSP00000445370.1:p.Asn374Ser
ENST00000469334.5:n.1762A>G
ENST00000476049.1:c.*1523A>G	ENSP00000463483.1:n.*1523A>G
ENST00000578044.5:c.965A>G	ENSP00000464511.1:p.Asn322Ser
ENST00000578112.5:c.*972A>G	ENSP00000464501.1:n.*972A>G
ENST00000580419.5:c.1070A>G	ENSP00000462475.1:p.Asn357Ser
NM_003079.4:c.1175A>G	NP_003070.3:p.Asn392Ser
NM_003079.5:c.1175A>G MANE Select	NP_003070.3:p.Asn392Ser