Canonical Allele Identifier: CA16043112
Gene: SMARCE1 HGNC NCBI

Linked Data

ClinVar Variation Id: 373044
dbSNP Id: rs1057518166

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40631657G>A , CM000679.2:g.40631657G>A GRCh38
NC_000017.10:g.38787909G>A , CM000679.1:g.38787909G>A GRCh37
NC_000017.9:g.36041435G>A NCBI36
NG_032163.1:g.21195C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000264640.9:c.751C>T ENSP00000466608.2:p.Arg251Ter
ENST00000348513.12:c.751C>T MANE Select ENSP00000323967.6:p.Arg251Ter
ENST00000377808.9:c.646C>T ENSP00000367039.4:p.Arg216Ter
ENST00000400122.8:c.541C>T ENSP00000411607.2:p.Arg181Ter
ENST00000447024.6:c.751C>T ENSP00000392958.2:p.Arg251Ter
ENST00000469334.6:n.1349C>T
ENST00000478349.7:c.703C>T ENSP00000463216.2:p.Arg235Ter
ENST00000578044.6:c.541C>T ENSP00000464511.1:p.Arg181Ter
ENST00000578112.6:c.*548C>T ENSP00000464501.1:n.*548C>T
ENST00000580419.6:c.646C>T ENSP00000462475.2:p.Arg216Ter
ENST00000580654.6:c.697C>T ENSP00000464061.2:p.Arg233Ter
ENST00000642459.1:c.541C>T ENSP00000496546.1:p.Arg181Ter
ENST00000642576.1:n.1227C>T
ENST00000643030.1:n.707C>T
ENST00000643255.1:c.*2815C>T ENSP00000493957.1:n.*2815C>T
ENST00000643318.1:c.541C>T ENSP00000494771.1:p.Arg181Ter
ENST00000643378.1:n.1306C>T
ENST00000643580.1:n.105C>T
ENST00000643683.1:c.751C>T ENSP00000496094.1:p.Arg251Ter
ENST00000643893.1:n.1044C>T
ENST00000644443.1:n.1972C>T
ENST00000644523.1:n.797C>T
ENST00000644527.1:c.541C>T ENSP00000493974.1:p.Arg181Ter
ENST00000644701.1:c.751C>T ENSP00000496097.1:p.Arg251Ter
ENST00000644909.1:c.*20C>T ENSP00000493649.1:n.*20C>T
ENST00000645104.1:c.646C>T ENSP00000496311.1:p.Arg216Ter
ENST00000645152.1:n.747C>T
ENST00000645227.1:c.*360C>T ENSP00000495021.1:n.*360C>T
ENST00000646242.1:n.4943C>T
ENST00000646283.1:c.559C>T ENSP00000494537.1:p.Arg187Ter
ENST00000646401.1:n.1371C>T
ENST00000646448.1:n.1358C>T
ENST00000646482.1:c.751C>T ENSP00000496661.1:p.Arg251Ter
ENST00000646856.1:c.*548C>T ENSP00000494505.1:n.*548C>T
ENST00000647294.1:c.*681C>T ENSP00000494815.1:n.*681C>T
ENST00000647508.1:c.646C>T ENSP00000496445.1:p.Arg216Ter
ENST00000647515.1:c.541C>T ENSP00000495857.1:p.Arg181Ter
ENST00000264640.8:c.191C>T
ENST00000348513.10:c.751C>T ENSP00000323967.6:p.Arg251Ter
ENST00000377808.8:c.646C>T ENSP00000367039.4:p.Arg216Ter
ENST00000400122.7:c.541C>T ENSP00000411607.2:p.Arg181Ter
ENST00000431889.6:c.697C>T ENSP00000445370.1:p.Arg233Ter
ENST00000447024.5:c.133C>T ENSP00000392958.1:p.Arg45Ter
ENST00000469334.5:n.1338C>T
ENST00000476049.1:c.*1099C>T ENSP00000463483.1:n.*1099C>T
ENST00000478349.6:c.703C>T ENSP00000463216.1:p.Arg235Ter
ENST00000578044.5:c.541C>T ENSP00000464511.1:p.Arg181Ter
ENST00000578112.5:c.*548C>T ENSP00000464501.1:n.*548C>T
ENST00000580419.5:c.646C>T ENSP00000462475.1:p.Arg216Ter
NM_003079.4:c.751C>T NP_003070.3:p.Arg251Ter
NM_003079.5:c.751C>T MANE Select NP_003070.3:p.Arg251Ter