Canonical Allele Identifier: CA16615351
Gene: SMARCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 407072
ClinVar RCV Id: RCV000466082
dbSNP Id: rs1060501395

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40636451G>A , CM000679.2:g.40636451G>A GRCh38
NC_000017.10:g.38792703G>A , CM000679.1:g.38792703G>A GRCh37
NC_000017.9:g.36046229G>A NCBI36
NG_032163.1:g.16401C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264640.9:c.313C>T ENSP00000466608.2:p.Arg105Ter
ENST00000348513.12:c.313C>T MANE Select ENSP00000323967.6:p.Arg105Ter
ENST00000377808.9:c.208C>T ENSP00000367039.4:p.Arg70Ter
ENST00000400122.8:c.103C>T ENSP00000411607.2:p.Arg35Ter
ENST00000447024.6:c.313C>T ENSP00000392958.2:p.Arg105Ter
ENST00000469334.6:n.410C>T
ENST00000478349.7:c.265C>T ENSP00000463216.2:p.Arg89Ter
ENST00000481231.6:c.*416C>T ENSP00000462381.2:n.*416C>T
ENST00000493660.6:n.323C>T
ENST00000577721.6:c.103C>T ENSP00000462857.2:p.Arg35Ter
ENST00000578044.6:c.103C>T ENSP00000464511.1:p.Arg35Ter
ENST00000578112.6:c.*110C>T ENSP00000464501.1:n.*110C>T
ENST00000578995.6:n.316C>T
ENST00000580419.6:c.208C>T ENSP00000462475.2:p.Arg70Ter
ENST00000580654.6:c.259C>T ENSP00000464061.2:p.Arg87Ter
ENST00000582955.6:c.313C>T ENSP00000463282.2:p.Arg105Ter
ENST00000642459.1:c.103C>T ENSP00000496546.1:p.Arg35Ter
ENST00000642576.1:n.288C>T
ENST00000643030.1:n.269C>T
ENST00000643255.1:c.*2377C>T ENSP00000493957.1:n.*2377C>T
ENST00000643318.1:c.103C>T ENSP00000494771.1:p.Arg35Ter
ENST00000643683.1:c.313C>T ENSP00000496094.1:p.Arg105Ter
ENST00000644257.1:n.275C>T
ENST00000644523.1:n.359C>T
ENST00000644527.1:c.103C>T ENSP00000493974.1:p.Arg35Ter
ENST00000644701.1:c.313C>T ENSP00000496097.1:p.Arg105Ter
ENST00000644909.1:c.103C>T ENSP00000493649.1:p.Arg35Ter
ENST00000645104.1:c.208C>T ENSP00000496311.1:p.Arg70Ter
ENST00000645152.1:n.309C>T
ENST00000645227.1:c.103C>T ENSP00000495021.1:p.Arg35Ter
ENST00000645478.1:c.215C>T
ENST00000645663.1:n.295C>T
ENST00000646242.1:n.441C>T
ENST00000646283.1:c.103C>T ENSP00000494537.1:p.Arg35Ter
ENST00000646401.1:n.432C>T
ENST00000646448.1:n.419C>T
ENST00000646482.1:c.313C>T ENSP00000496661.1:p.Arg105Ter
ENST00000646856.1:c.*110C>T ENSP00000494505.1:n.*110C>T
ENST00000647221.1:n.382C>T
ENST00000647294.1:c.*243C>T ENSP00000494815.1:n.*243C>T
ENST00000647347.1:n.308C>T
ENST00000647508.1:c.208C>T ENSP00000496445.1:p.Arg70Ter
ENST00000647515.1:c.103C>T ENSP00000495857.1:p.Arg35Ter
ENST00000348513.10:c.313C>T ENSP00000323967.6:p.Arg105Ter
ENST00000377808.8:c.208C>T ENSP00000367039.4:p.Arg70Ter
ENST00000400122.7:c.103C>T ENSP00000411607.2:p.Arg35Ter
ENST00000431889.6:c.259C>T ENSP00000445370.1:p.Arg87Ter
ENST00000469334.5:n.399C>T
ENST00000476049.1:c.*661C>T ENSP00000463483.1:n.*661C>T
ENST00000478349.6:c.265C>T ENSP00000463216.1:p.Arg89Ter
ENST00000481231.5:c.*243C>T ENSP00000462381.1:n.*243C>T
ENST00000493660.5:n.294C>T
ENST00000577721.5:c.103C>T ENSP00000462857.1:p.Arg35Ter
ENST00000578044.5:c.103C>T ENSP00000464511.1:p.Arg35Ter
ENST00000578112.5:c.*110C>T ENSP00000464501.1:n.*110C>T
ENST00000578995.5:n.316C>T
ENST00000580419.5:c.208C>T ENSP00000462475.1:p.Arg70Ter
ENST00000580654.5:c.259C>T ENSP00000464061.1:p.Arg87Ter
ENST00000582955.5:c.313C>T ENSP00000463282.1:p.Arg105Ter
ENST00000583294.1:n.381C>T
NM_003079.4:c.313C>T NP_003070.3:p.Arg105Ter
NM_003079.5:c.313C>T MANE Select NP_003070.3:p.Arg105Ter