Canonical Allele Identifier: CA399361025

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785102T>A (hg19) ; chr17:g.40628850T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628850T>A , CM000679.2:g.40628850T>A	GRCh38
NC_000017.10:g.38785102T>A , CM000679.1:g.38785102T>A	GRCh37
NC_000017.9:g.36038628T>A	NCBI36
NG_032163.1:g.24002A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*733A>T	ENSP00000466608.2:n.*733A>T
ENST00000348513.12:c.1171A>T MANE Select	ENSP00000323967.6:p.Ser391Cys
ENST00000377808.9:c.*158A>T	ENSP00000367039.4:n.*158A>T
ENST00000400122.8:c.*158A>T	ENSP00000411607.2:n.*158A>T
ENST00000469334.6:n.1769A>T
ENST00000578044.6:c.961A>T	ENSP00000464511.1:p.Ser321Cys
ENST00000578112.6:c.*968A>T	ENSP00000464501.1:n.*968A>T
ENST00000580419.6:c.*150A>T	ENSP00000462475.2:n.*150A>T
ENST00000642576.1:n.2314A>T
ENST00000643030.1:n.1794A>T
ENST00000643255.1:c.*3235A>T	ENSP00000493957.1:n.*3235A>T
ENST00000643318.1:c.961A>T	ENSP00000494771.1:p.Ser321Cys
ENST00000643378.1:n.1726A>T
ENST00000643683.1:c.1171A>T	ENSP00000496094.1:p.Ser391Cys
ENST00000643893.1:n.1464A>T
ENST00000644443.1:n.3059A>T
ENST00000644523.1:n.1217A>T
ENST00000644527.1:c.943A>T	ENSP00000493974.1:p.Ser315Cys
ENST00000644701.1:c.*158A>T	ENSP00000496097.1:n.*158A>T
ENST00000644909.1:c.*440A>T	ENSP00000493649.1:n.*440A>T
ENST00000645152.1:n.1834A>T
ENST00000645227.1:c.*859A>T	ENSP00000495021.1:n.*859A>T
ENST00000646242.1:n.7083A>T
ENST00000646283.1:c.979A>T	ENSP00000494537.1:p.Ser327Cys
ENST00000646401.1:n.2537A>T
ENST00000646448.1:n.2445A>T
ENST00000646856.1:c.*1047A>T	ENSP00000494505.1:n.*1047A>T
ENST00000647294.1:c.*1101A>T	ENSP00000494815.1:n.*1101A>T
ENST00000647508.1:c.1066A>T	ENSP00000496445.1:p.Ser356Cys
ENST00000647515.1:c.*702A>T	ENSP00000495857.1:n.*702A>T
ENST00000348513.10:c.1171A>T	ENSP00000323967.6:p.Ser391Cys
ENST00000377808.8:c.*158A>T	ENSP00000367039.4:n.*158A>T
ENST00000400122.7:c.*158A>T	ENSP00000411607.2:n.*158A>T
ENST00000431889.6:c.1117A>T	ENSP00000445370.1:p.Ser373Cys
ENST00000469334.5:n.1758A>T
ENST00000476049.1:c.*1519A>T	ENSP00000463483.1:n.*1519A>T
ENST00000578044.5:c.961A>T	ENSP00000464511.1:p.Ser321Cys
ENST00000578112.5:c.*968A>T	ENSP00000464501.1:n.*968A>T
ENST00000580419.5:c.1066A>T	ENSP00000462475.1:p.Ser356Cys
NM_003079.4:c.1171A>T	NP_003070.3:p.Ser391Cys
NM_003079.5:c.1171A>T MANE Select	NP_003070.3:p.Ser391Cys