Canonical Allele Identifier: CA399361028

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1063929
• ClinVar RCV Id: RCV001373823
• dbSNP Id: rs2143980380
• MyVariant Identifiers: chr17:g.38785102T>C (hg19) ; chr17:g.40628850T>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*733A>G	ENSP00000466608.2:n.*733A>G
ENST00000348513.12:c.1171A>G MANE Select	ENSP00000323967.6:p.Ser391Gly
ENST00000377808.9:c.*158A>G	ENSP00000367039.4:n.*158A>G
ENST00000400122.8:c.*158A>G	ENSP00000411607.2:n.*158A>G
ENST00000469334.6:n.1769A>G
ENST00000578044.6:c.961A>G	ENSP00000464511.1:p.Ser321Gly
ENST00000578112.6:c.*968A>G	ENSP00000464501.1:n.*968A>G
ENST00000580419.6:c.*150A>G	ENSP00000462475.2:n.*150A>G
ENST00000642576.1:n.2314A>G
ENST00000643030.1:n.1794A>G
ENST00000643255.1:c.*3235A>G	ENSP00000493957.1:n.*3235A>G
ENST00000643318.1:c.961A>G	ENSP00000494771.1:p.Ser321Gly
ENST00000643378.1:n.1726A>G
ENST00000643683.1:c.1171A>G	ENSP00000496094.1:p.Ser391Gly
ENST00000643893.1:n.1464A>G
ENST00000644443.1:n.3059A>G
ENST00000644523.1:n.1217A>G
ENST00000644527.1:c.943A>G	ENSP00000493974.1:p.Ser315Gly
ENST00000644701.1:c.*158A>G	ENSP00000496097.1:n.*158A>G
ENST00000644909.1:c.*440A>G	ENSP00000493649.1:n.*440A>G
ENST00000645152.1:n.1834A>G
ENST00000645227.1:c.*859A>G	ENSP00000495021.1:n.*859A>G
ENST00000646242.1:n.7083A>G
ENST00000646283.1:c.979A>G	ENSP00000494537.1:p.Ser327Gly
ENST00000646401.1:n.2537A>G
ENST00000646448.1:n.2445A>G
ENST00000646856.1:c.*1047A>G	ENSP00000494505.1:n.*1047A>G
ENST00000647294.1:c.*1101A>G	ENSP00000494815.1:n.*1101A>G
ENST00000647508.1:c.1066A>G	ENSP00000496445.1:p.Ser356Gly
ENST00000647515.1:c.*702A>G	ENSP00000495857.1:n.*702A>G
ENST00000348513.10:c.1171A>G	ENSP00000323967.6:p.Ser391Gly
ENST00000377808.8:c.*158A>G	ENSP00000367039.4:n.*158A>G
ENST00000400122.7:c.*158A>G	ENSP00000411607.2:n.*158A>G
ENST00000431889.6:c.1117A>G	ENSP00000445370.1:p.Ser373Gly
ENST00000469334.5:n.1758A>G
ENST00000476049.1:c.*1519A>G	ENSP00000463483.1:n.*1519A>G
ENST00000578044.5:c.961A>G	ENSP00000464511.1:p.Ser321Gly
ENST00000578112.5:c.*968A>G	ENSP00000464501.1:n.*968A>G
ENST00000580419.5:c.1066A>G	ENSP00000462475.1:p.Ser356Gly
NM_003079.4:c.1171A>G	NP_003070.3:p.Ser391Gly
NM_003079.5:c.1171A>G MANE Select	NP_003070.3:p.Ser391Gly