Canonical Allele Identifier: CA399361037

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1318195719
• gnomAD v2: 17-38785104-T-C
• MyVariant Identifiers: chr17:g.38785104T>C (hg19) ; chr17:g.40628852T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628852T>C , CM000679.2:g.40628852T>C	GRCh38
NC_000017.10:g.38785104T>C , CM000679.1:g.38785104T>C	GRCh37
NC_000017.9:g.36038630T>C	NCBI36
NG_032163.1:g.24000A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*731A>G	ENSP00000466608.2:n.*731A>G
ENST00000348513.12:c.1169A>G MANE Select	ENSP00000323967.6:p.Glu390Gly
ENST00000377808.9:c.*156A>G	ENSP00000367039.4:n.*156A>G
ENST00000400122.8:c.*156A>G	ENSP00000411607.2:n.*156A>G
ENST00000469334.6:n.1767A>G
ENST00000578044.6:c.959A>G	ENSP00000464511.1:p.Glu320Gly
ENST00000578112.6:c.*966A>G	ENSP00000464501.1:n.*966A>G
ENST00000580419.6:c.*148A>G	ENSP00000462475.2:n.*148A>G
ENST00000642576.1:n.2312A>G
ENST00000643030.1:n.1792A>G
ENST00000643255.1:c.*3233A>G	ENSP00000493957.1:n.*3233A>G
ENST00000643318.1:c.959A>G	ENSP00000494771.1:p.Glu320Gly
ENST00000643378.1:n.1724A>G
ENST00000643683.1:c.1169A>G	ENSP00000496094.1:p.Glu390Gly
ENST00000643893.1:n.1462A>G
ENST00000644443.1:n.3057A>G
ENST00000644523.1:n.1215A>G
ENST00000644527.1:c.941A>G	ENSP00000493974.1:p.Glu314Gly
ENST00000644701.1:c.*156A>G	ENSP00000496097.1:n.*156A>G
ENST00000644909.1:c.*438A>G	ENSP00000493649.1:n.*438A>G
ENST00000645152.1:n.1832A>G
ENST00000645227.1:c.*857A>G	ENSP00000495021.1:n.*857A>G
ENST00000646242.1:n.7081A>G
ENST00000646283.1:c.977A>G	ENSP00000494537.1:p.Glu326Gly
ENST00000646401.1:n.2535A>G
ENST00000646448.1:n.2443A>G
ENST00000646856.1:c.*1045A>G	ENSP00000494505.1:n.*1045A>G
ENST00000647294.1:c.*1099A>G	ENSP00000494815.1:n.*1099A>G
ENST00000647508.1:c.1064A>G	ENSP00000496445.1:p.Glu355Gly
ENST00000647515.1:c.*700A>G	ENSP00000495857.1:n.*700A>G
ENST00000348513.10:c.1169A>G	ENSP00000323967.6:p.Glu390Gly
ENST00000377808.8:c.*156A>G	ENSP00000367039.4:n.*156A>G
ENST00000400122.7:c.*156A>G	ENSP00000411607.2:n.*156A>G
ENST00000431889.6:c.1115A>G	ENSP00000445370.1:p.Glu372Gly
ENST00000469334.5:n.1756A>G
ENST00000476049.1:c.*1517A>G	ENSP00000463483.1:n.*1517A>G
ENST00000578044.5:c.959A>G	ENSP00000464511.1:p.Glu320Gly
ENST00000578112.5:c.*966A>G	ENSP00000464501.1:n.*966A>G
ENST00000580419.5:c.1064A>G	ENSP00000462475.1:p.Glu355Gly
NM_003079.4:c.1169A>G	NP_003070.3:p.Glu390Gly
NM_003079.5:c.1169A>G MANE Select	NP_003070.3:p.Glu390Gly