Canonical Allele Identifier: CA399360730

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785050T>C (hg19) ; chr17:g.40628798T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628798T>C , CM000679.2:g.40628798T>C	GRCh38
NC_000017.10:g.38785050T>C , CM000679.1:g.38785050T>C	GRCh37
NC_000017.9:g.36038576T>C	NCBI36
NG_032163.1:g.24054A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*785A>G	ENSP00000466608.2:n.*785A>G
ENST00000348513.12:c.1223A>G MANE Select	ENSP00000323967.6:p.Glu408Gly
ENST00000377808.9:c.*210A>G	ENSP00000367039.4:n.*210A>G
ENST00000400122.8:c.*210A>G	ENSP00000411607.2:n.*210A>G
ENST00000469334.6:n.1821A>G
ENST00000578044.6:c.1013A>G	ENSP00000464511.1:p.Glu338Gly
ENST00000578112.6:c.*1020A>G	ENSP00000464501.1:n.*1020A>G
ENST00000580419.6:c.*202A>G	ENSP00000462475.2:n.*202A>G
ENST00000642576.1:n.2366A>G
ENST00000643030.1:n.1846A>G
ENST00000643255.1:c.*3287A>G	ENSP00000493957.1:n.*3287A>G
ENST00000643318.1:c.1013A>G	ENSP00000494771.1:p.Glu338Gly
ENST00000643378.1:n.1778A>G
ENST00000643683.1:c.1223A>G	ENSP00000496094.1:p.Glu408Gly
ENST00000643893.1:n.1516A>G
ENST00000644443.1:n.3111A>G
ENST00000644523.1:n.1269A>G
ENST00000644527.1:c.995A>G	ENSP00000493974.1:p.Glu332Gly
ENST00000644701.1:c.*210A>G	ENSP00000496097.1:n.*210A>G
ENST00000644909.1:c.*492A>G	ENSP00000493649.1:n.*492A>G
ENST00000645152.1:n.1886A>G
ENST00000645227.1:c.*911A>G	ENSP00000495021.1:n.*911A>G
ENST00000646242.1:n.7135A>G
ENST00000646283.1:c.1031A>G	ENSP00000494537.1:p.Glu344Gly
ENST00000646401.1:n.2589A>G
ENST00000646448.1:n.2497A>G
ENST00000646856.1:c.*1099A>G	ENSP00000494505.1:n.*1099A>G
ENST00000647294.1:c.*1153A>G	ENSP00000494815.1:n.*1153A>G
ENST00000647508.1:c.1118A>G	ENSP00000496445.1:p.Glu373Gly
ENST00000647515.1:c.*754A>G	ENSP00000495857.1:n.*754A>G
ENST00000348513.10:c.1223A>G	ENSP00000323967.6:p.Glu408Gly
ENST00000377808.8:c.*210A>G	ENSP00000367039.4:n.*210A>G
ENST00000400122.7:c.*210A>G	ENSP00000411607.2:n.*210A>G
ENST00000431889.6:c.1169A>G	ENSP00000445370.1:p.Glu390Gly
ENST00000469334.5:n.1810A>G
ENST00000476049.1:c.*1571A>G	ENSP00000463483.1:n.*1571A>G
ENST00000578044.5:c.1013A>G	ENSP00000464511.1:p.Glu338Gly
ENST00000578112.5:c.*1020A>G	ENSP00000464501.1:n.*1020A>G
ENST00000580419.5:c.1118A>G	ENSP00000462475.1:p.Glu373Gly
NM_003079.4:c.1223A>G	NP_003070.3:p.Glu408Gly
NM_003079.5:c.1223A>G MANE Select	NP_003070.3:p.Glu408Gly