Canonical Allele Identifier: CA399361419

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 463416
• ClinVar RCV Id: RCV000545402
• dbSNP Id: rs1555605086
• MyVariant Identifiers: chr17:g.38785170T>C (hg19) ; chr17:g.40628918T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628918T>C , CM000679.2:g.40628918T>C	GRCh38
NC_000017.10:g.38785170T>C , CM000679.1:g.38785170T>C	GRCh37
NC_000017.9:g.36038696T>C	NCBI36
NG_032163.1:g.23934A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*665A>G	ENSP00000466608.2:n.*665A>G
ENST00000348513.12:c.1103A>G MANE Select	ENSP00000323967.6:p.Glu368Gly
ENST00000377808.9:c.*90A>G	ENSP00000367039.4:n.*90A>G
ENST00000400122.8:c.*90A>G	ENSP00000411607.2:n.*90A>G
ENST00000469334.6:n.1701A>G
ENST00000578044.6:c.893A>G	ENSP00000464511.1:p.Glu298Gly
ENST00000578112.6:c.*900A>G	ENSP00000464501.1:n.*900A>G
ENST00000580419.6:c.*82A>G	ENSP00000462475.2:n.*82A>G
ENST00000642576.1:n.2246A>G
ENST00000643030.1:n.1726A>G
ENST00000643255.1:c.*3167A>G	ENSP00000493957.1:n.*3167A>G
ENST00000643318.1:c.893A>G	ENSP00000494771.1:p.Glu298Gly
ENST00000643378.1:n.1658A>G
ENST00000643683.1:c.1103A>G	ENSP00000496094.1:p.Glu368Gly
ENST00000643893.1:n.1396A>G
ENST00000644443.1:n.2991A>G
ENST00000644523.1:n.1149A>G
ENST00000644527.1:c.875A>G	ENSP00000493974.1:p.Glu292Gly
ENST00000644701.1:c.*90A>G	ENSP00000496097.1:n.*90A>G
ENST00000644909.1:c.*372A>G	ENSP00000493649.1:n.*372A>G
ENST00000645152.1:n.1766A>G
ENST00000645227.1:c.*791A>G	ENSP00000495021.1:n.*791A>G
ENST00000646242.1:n.7015A>G
ENST00000646283.1:c.911A>G	ENSP00000494537.1:p.Glu304Gly
ENST00000646401.1:n.2469A>G
ENST00000646448.1:n.2377A>G
ENST00000646856.1:c.*979A>G	ENSP00000494505.1:n.*979A>G
ENST00000647294.1:c.*1033A>G	ENSP00000494815.1:n.*1033A>G
ENST00000647508.1:c.998A>G	ENSP00000496445.1:p.Glu333Gly
ENST00000647515.1:c.*634A>G	ENSP00000495857.1:n.*634A>G
ENST00000348513.10:c.1103A>G	ENSP00000323967.6:p.Glu368Gly
ENST00000377808.8:c.*90A>G	ENSP00000367039.4:n.*90A>G
ENST00000400122.7:c.*90A>G	ENSP00000411607.2:n.*90A>G
ENST00000431889.6:c.1049A>G	ENSP00000445370.1:p.Glu350Gly
ENST00000469334.5:n.1690A>G
ENST00000476049.1:c.*1451A>G	ENSP00000463483.1:n.*1451A>G
ENST00000578044.5:c.893A>G	ENSP00000464511.1:p.Glu298Gly
ENST00000578112.5:c.*900A>G	ENSP00000464501.1:n.*900A>G
ENST00000580419.5:c.998A>G	ENSP00000462475.1:p.Glu333Gly
NM_003079.4:c.1103A>G	NP_003070.3:p.Glu368Gly
NM_003079.5:c.1103A>G MANE Select	NP_003070.3:p.Glu368Gly