Canonical Allele Identifier: CA499962879

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628941G>A , CM000679.2:g.40628941G>A	GRCh38
NC_000017.10:g.38785193G>A , CM000679.1:g.38785193G>A	GRCh37
NC_000017.9:g.36038719G>A	NCBI36
NG_032163.1:g.23911C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003079.5:c.1080C>T MANE Select	NP_003070.3:p.Gly360=
ENST00000348513.12:c.1080C>T MANE Select	ENSP00000323967.6:p.Gly360=
NM_003079.4:c.1080C>T	NP_003070.3:p.Gly360=
ENST00000264640.9:c.*642C>T	ENSP00000466608.2:n.*642C>T
ENST00000348513.10:c.1080C>T	ENSP00000323967.6:p.Gly360=
ENST00000377808.8:c.*67C>T	ENSP00000367039.4:n.*67C>T
ENST00000377808.9:c.*67C>T	ENSP00000367039.4:n.*67C>T
ENST00000400122.7:c.*67C>T	ENSP00000411607.2:n.*67C>T
ENST00000400122.8:c.*67C>T	ENSP00000411607.2:n.*67C>T
ENST00000431889.6:c.1026C>T	ENSP00000445370.1:p.Gly342=
ENST00000469334.5:n.1667C>T
ENST00000469334.6:n.1678C>T
ENST00000476049.1:c.*1428C>T	ENSP00000463483.1:n.*1428C>T
ENST00000578044.5:c.870C>T	ENSP00000464511.1:p.Gly290=
ENST00000578044.6:c.870C>T	ENSP00000464511.1:p.Gly290=
ENST00000578112.5:c.*877C>T	ENSP00000464501.1:n.*877C>T
ENST00000578112.6:c.*877C>T	ENSP00000464501.1:n.*877C>T
ENST00000580419.5:c.975C>T	ENSP00000462475.1:p.Gly325=
ENST00000580419.6:c.*59C>T	ENSP00000462475.2:n.*59C>T
ENST00000642576.1:n.2223C>T
ENST00000643030.1:n.1703C>T
ENST00000643255.1:c.*3144C>T	ENSP00000493957.1:n.*3144C>T
ENST00000643318.1:c.870C>T	ENSP00000494771.1:p.Gly290=
ENST00000643378.1:n.1635C>T
ENST00000643683.1:c.1080C>T	ENSP00000496094.1:p.Gly360=
ENST00000643893.1:n.1373C>T
ENST00000644443.1:n.2968C>T
ENST00000644523.1:n.1126C>T
ENST00000644527.1:c.852C>T	ENSP00000493974.1:p.Gly284=
ENST00000644701.1:c.*67C>T	ENSP00000496097.1:n.*67C>T
ENST00000644909.1:c.*349C>T	ENSP00000493649.1:n.*349C>T
ENST00000645152.1:n.1743C>T
ENST00000645227.1:c.*768C>T	ENSP00000495021.1:n.*768C>T
ENST00000646242.1:n.6992C>T
ENST00000646283.1:c.888C>T	ENSP00000494537.1:p.Gly296=
ENST00000646401.1:n.2446C>T
ENST00000646448.1:n.2354C>T
ENST00000646856.1:c.*956C>T	ENSP00000494505.1:n.*956C>T
ENST00000647294.1:c.*1010C>T	ENSP00000494815.1:n.*1010C>T
ENST00000647508.1:c.975C>T	ENSP00000496445.1:p.Gly325=
ENST00000647515.1:c.*611C>T	ENSP00000495857.1:n.*611C>T