Canonical Allele Identifier: CA2576261819

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628747T>G , CM000679.2:g.40628747T>G	GRCh38
NC_000017.10:g.38784999T>G , CM000679.1:g.38784999T>G	GRCh37
NC_000017.9:g.36038525T>G	NCBI36
NG_032163.1:g.24105A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*836A>C	ENSP00000466608.2:n.*836A>C
ENST00000348513.12:c.*38A>C MANE Select	ENSP00000323967.6:n.*38A>C
ENST00000377808.9:c.*261A>C	ENSP00000367039.4:n.*261A>C
ENST00000400122.8:c.*261A>C	ENSP00000411607.2:n.*261A>C
ENST00000469334.6:n.1872A>C
ENST00000578112.6:c.*1071A>C	ENSP00000464501.1:n.*1071A>C
ENST00000580419.6:c.*253A>C	ENSP00000462475.2:n.*253A>C
ENST00000642576.1:n.2417A>C
ENST00000643030.1:n.1897A>C
ENST00000643255.1:c.*3338A>C	ENSP00000493957.1:n.*3338A>C
ENST00000643318.1:c.*38A>C	ENSP00000494771.1:n.*38A>C
ENST00000643378.1:n.1829A>C
ENST00000643683.1:c.*38A>C	ENSP00000496094.1:n.*38A>C
ENST00000643893.1:n.1567A>C
ENST00000644443.1:n.3162A>C
ENST00000644523.1:n.1320A>C
ENST00000644527.1:c.*38A>C	ENSP00000493974.1:n.*38A>C
ENST00000644701.1:c.*261A>C	ENSP00000496097.1:n.*261A>C
ENST00000644909.1:c.*543A>C	ENSP00000493649.1:n.*543A>C
ENST00000645152.1:n.1937A>C
ENST00000645227.1:c.*962A>C	ENSP00000495021.1:n.*962A>C
ENST00000646242.1:n.7186A>C
ENST00000646283.1:c.*38A>C	ENSP00000494537.1:n.*38A>C
ENST00000646401.1:n.2640A>C
ENST00000646856.1:c.*1150A>C	ENSP00000494505.1:n.*1150A>C
ENST00000647294.1:c.*1204A>C	ENSP00000494815.1:n.*1204A>C
ENST00000647508.1:c.*38A>C	ENSP00000496445.1:n.*38A>C
ENST00000647515.1:c.*805A>C	ENSP00000495857.1:n.*805A>C
ENST00000348513.10:c.*38A>C	ENSP00000323967.6:n.*38A>C
ENST00000431889.6:c.*38A>C	ENSP00000445370.1:n.*38A>C
ENST00000469334.5:n.1861A>C
ENST00000578112.5:c.*1071A>C	ENSP00000464501.1:n.*1071A>C
NM_003079.4:c.*38A>C	NP_003070.3:n.*38A>C
NM_003079.5:c.*38A>C MANE Select	NP_003070.3:n.*38A>C