Canonical Allele Identifier: CA399360776

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785056T>C (hg19) ; chr17:g.40628804T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628804T>C , CM000679.2:g.40628804T>C	GRCh38
NC_000017.10:g.38785056T>C , CM000679.1:g.38785056T>C	GRCh37
NC_000017.9:g.36038582T>C	NCBI36
NG_032163.1:g.24048A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*779A>G	ENSP00000466608.2:n.*779A>G
ENST00000348513.12:c.1217A>G MANE Select	ENSP00000323967.6:p.Glu406Gly
ENST00000377808.9:c.*204A>G	ENSP00000367039.4:n.*204A>G
ENST00000400122.8:c.*204A>G	ENSP00000411607.2:n.*204A>G
ENST00000469334.6:n.1815A>G
ENST00000578044.6:c.1007A>G	ENSP00000464511.1:p.Glu336Gly
ENST00000578112.6:c.*1014A>G	ENSP00000464501.1:n.*1014A>G
ENST00000580419.6:c.*196A>G	ENSP00000462475.2:n.*196A>G
ENST00000642576.1:n.2360A>G
ENST00000643030.1:n.1840A>G
ENST00000643255.1:c.*3281A>G	ENSP00000493957.1:n.*3281A>G
ENST00000643318.1:c.1007A>G	ENSP00000494771.1:p.Glu336Gly
ENST00000643378.1:n.1772A>G
ENST00000643683.1:c.1217A>G	ENSP00000496094.1:p.Glu406Gly
ENST00000643893.1:n.1510A>G
ENST00000644443.1:n.3105A>G
ENST00000644523.1:n.1263A>G
ENST00000644527.1:c.989A>G	ENSP00000493974.1:p.Glu330Gly
ENST00000644701.1:c.*204A>G	ENSP00000496097.1:n.*204A>G
ENST00000644909.1:c.*486A>G	ENSP00000493649.1:n.*486A>G
ENST00000645152.1:n.1880A>G
ENST00000645227.1:c.*905A>G	ENSP00000495021.1:n.*905A>G
ENST00000646242.1:n.7129A>G
ENST00000646283.1:c.1025A>G	ENSP00000494537.1:p.Glu342Gly
ENST00000646401.1:n.2583A>G
ENST00000646448.1:n.2491A>G
ENST00000646856.1:c.*1093A>G	ENSP00000494505.1:n.*1093A>G
ENST00000647294.1:c.*1147A>G	ENSP00000494815.1:n.*1147A>G
ENST00000647508.1:c.1112A>G	ENSP00000496445.1:p.Glu371Gly
ENST00000647515.1:c.*748A>G	ENSP00000495857.1:n.*748A>G
ENST00000348513.10:c.1217A>G	ENSP00000323967.6:p.Glu406Gly
ENST00000377808.8:c.*204A>G	ENSP00000367039.4:n.*204A>G
ENST00000400122.7:c.*204A>G	ENSP00000411607.2:n.*204A>G
ENST00000431889.6:c.1163A>G	ENSP00000445370.1:p.Glu388Gly
ENST00000469334.5:n.1804A>G
ENST00000476049.1:c.*1565A>G	ENSP00000463483.1:n.*1565A>G
ENST00000578044.5:c.1007A>G	ENSP00000464511.1:p.Glu336Gly
ENST00000578112.5:c.*1014A>G	ENSP00000464501.1:n.*1014A>G
ENST00000580419.5:c.1112A>G	ENSP00000462475.1:p.Glu371Gly
NM_003079.4:c.1217A>G	NP_003070.3:p.Glu406Gly
NM_003079.5:c.1217A>G MANE Select	NP_003070.3:p.Glu406Gly