Canonical Allele Identifier: CA8545041

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 643758
• ClinVar RCV Id: RCV000797537 ; RCV001010460 ; RCV003151812
• dbSNP Id: rs62622817
• ExAC: 17:38785042 C / T
• gnomAD v2: 17-38785042-C-T
• gnomAD v3: 17-40628790-C-T
• gnomAD v4: 17-40628790-C-T
• MyVariant Identifiers: chr17:g.38785042C>T (hg19) ; chr17:g.40628790C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628790C>T , CM000679.2:g.40628790C>T	GRCh38
NC_000017.10:g.38785042C>T , CM000679.1:g.38785042C>T	GRCh37
NC_000017.9:g.36038568C>T	NCBI36
NG_032163.1:g.24062G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*793G>A	ENSP00000466608.2:n.*793G>A
ENST00000348513.12:c.1231G>A MANE Select	ENSP00000323967.6:p.Glu411Lys
ENST00000377808.9:c.*218G>A	ENSP00000367039.4:n.*218G>A
ENST00000400122.8:c.*218G>A	ENSP00000411607.2:n.*218G>A
ENST00000469334.6:n.1829G>A
ENST00000578044.6:c.1021G>A	ENSP00000464511.1:p.Glu341Lys
ENST00000578112.6:c.*1028G>A	ENSP00000464501.1:n.*1028G>A
ENST00000580419.6:c.*210G>A	ENSP00000462475.2:n.*210G>A
ENST00000642576.1:n.2374G>A
ENST00000643030.1:n.1854G>A
ENST00000643255.1:c.*3295G>A	ENSP00000493957.1:n.*3295G>A
ENST00000643318.1:c.1021G>A	ENSP00000494771.1:p.Glu341Lys
ENST00000643378.1:n.1786G>A
ENST00000643683.1:c.1231G>A	ENSP00000496094.1:p.Glu411Lys
ENST00000643893.1:n.1524G>A
ENST00000644443.1:n.3119G>A
ENST00000644523.1:n.1277G>A
ENST00000644527.1:c.1003G>A	ENSP00000493974.1:p.Glu335Lys
ENST00000644701.1:c.*218G>A	ENSP00000496097.1:n.*218G>A
ENST00000644909.1:c.*500G>A	ENSP00000493649.1:n.*500G>A
ENST00000645152.1:n.1894G>A
ENST00000645227.1:c.*919G>A	ENSP00000495021.1:n.*919G>A
ENST00000646242.1:n.7143G>A
ENST00000646283.1:c.1039G>A	ENSP00000494537.1:p.Glu347Lys
ENST00000646401.1:n.2597G>A
ENST00000646448.1:n.2505G>A
ENST00000646856.1:c.*1107G>A	ENSP00000494505.1:n.*1107G>A
ENST00000647294.1:c.*1161G>A	ENSP00000494815.1:n.*1161G>A
ENST00000647508.1:c.1126G>A	ENSP00000496445.1:p.Glu376Lys
ENST00000647515.1:c.*762G>A	ENSP00000495857.1:n.*762G>A
ENST00000348513.10:c.1231G>A	ENSP00000323967.6:p.Glu411Lys
ENST00000377808.8:c.*218G>A	ENSP00000367039.4:n.*218G>A
ENST00000400122.7:c.*218G>A	ENSP00000411607.2:n.*218G>A
ENST00000431889.6:c.1177G>A	ENSP00000445370.1:p.Glu393Lys
ENST00000469334.5:n.1818G>A
ENST00000578044.5:c.1021G>A	ENSP00000464511.1:p.Glu341Lys
ENST00000578112.5:c.*1028G>A	ENSP00000464501.1:n.*1028G>A
ENST00000580419.5:c.1126G>A	ENSP00000462475.1:p.Glu376Lys
NM_003079.4:c.1231G>A	NP_003070.3:p.Glu411Lys
NM_003079.5:c.1231G>A MANE Select	NP_003070.3:p.Glu411Lys