Canonical Allele Identifier: CA399364499

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38787936C>A (hg19) ; chr17:g.40631684C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631684C>A , CM000679.2:g.40631684C>A	GRCh38
NC_000017.10:g.38787936C>A , CM000679.1:g.38787936C>A	GRCh37
NC_000017.9:g.36041462C>A	NCBI36
NG_032163.1:g.21168G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.724G>T	ENSP00000466608.2:p.Glu242Ter
ENST00000348513.12:c.724G>T MANE Select	ENSP00000323967.6:p.Glu242Ter
ENST00000377808.9:c.619G>T	ENSP00000367039.4:p.Glu207Ter
ENST00000400122.8:c.514G>T	ENSP00000411607.2:p.Glu172Ter
ENST00000447024.6:c.724G>T	ENSP00000392958.2:p.Glu242Ter
ENST00000469334.6:n.1322G>T
ENST00000478349.7:c.676G>T	ENSP00000463216.2:p.Glu226Ter
ENST00000578044.6:c.514G>T	ENSP00000464511.1:p.Glu172Ter
ENST00000578112.6:c.*521G>T	ENSP00000464501.1:n.*521G>T
ENST00000580419.6:c.619G>T	ENSP00000462475.2:p.Glu207Ter
ENST00000580654.6:c.670G>T	ENSP00000464061.2:p.Glu224Ter
ENST00000642459.1:c.514G>T	ENSP00000496546.1:p.Glu172Ter
ENST00000642576.1:n.1200G>T
ENST00000643030.1:n.680G>T
ENST00000643255.1:c.*2788G>T	ENSP00000493957.1:n.*2788G>T
ENST00000643318.1:c.514G>T	ENSP00000494771.1:p.Glu172Ter
ENST00000643378.1:n.1279G>T
ENST00000643580.1:n.78G>T
ENST00000643683.1:c.724G>T	ENSP00000496094.1:p.Glu242Ter
ENST00000643893.1:n.1017G>T
ENST00000644443.1:n.1945G>T
ENST00000644523.1:n.770G>T
ENST00000644527.1:c.514G>T	ENSP00000493974.1:p.Glu172Ter
ENST00000644701.1:c.724G>T	ENSP00000496097.1:p.Glu242Ter
ENST00000644909.1:c.341G>T	ENSP00000493649.1:p.Arg114Ile
ENST00000645104.1:c.619G>T	ENSP00000496311.1:p.Glu207Ter
ENST00000645152.1:n.720G>T
ENST00000645227.1:c.*333G>T	ENSP00000495021.1:n.*333G>T
ENST00000646242.1:n.4916G>T
ENST00000646283.1:c.532G>T	ENSP00000494537.1:p.Glu178Ter
ENST00000646401.1:n.1344G>T
ENST00000646448.1:n.1331G>T
ENST00000646482.1:c.724G>T	ENSP00000496661.1:p.Glu242Ter
ENST00000646856.1:c.*521G>T	ENSP00000494505.1:n.*521G>T
ENST00000647294.1:c.*654G>T	ENSP00000494815.1:n.*654G>T
ENST00000647508.1:c.619G>T	ENSP00000496445.1:p.Glu207Ter
ENST00000647515.1:c.514G>T	ENSP00000495857.1:p.Glu172Ter
ENST00000264640.8:c.164G>T
ENST00000348513.10:c.724G>T	ENSP00000323967.6:p.Glu242Ter
ENST00000377808.8:c.619G>T	ENSP00000367039.4:p.Glu207Ter
ENST00000400122.7:c.514G>T	ENSP00000411607.2:p.Glu172Ter
ENST00000431889.6:c.670G>T	ENSP00000445370.1:p.Glu224Ter
ENST00000447024.5:c.106G>T	ENSP00000392958.1:p.Glu36Ter
ENST00000469334.5:n.1311G>T
ENST00000476049.1:c.*1072G>T	ENSP00000463483.1:n.*1072G>T
ENST00000478349.6:c.676G>T	ENSP00000463216.1:p.Glu226Ter
ENST00000578044.5:c.514G>T	ENSP00000464511.1:p.Glu172Ter
ENST00000578112.5:c.*521G>T	ENSP00000464501.1:n.*521G>T
ENST00000580419.5:c.619G>T	ENSP00000462475.1:p.Glu207Ter
NM_003079.4:c.724G>T	NP_003070.3:p.Glu242Ter
NM_003079.5:c.724G>T MANE Select	NP_003070.3:p.Glu242Ter