Canonical Allele Identifier: CA399360905

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785081C>G (hg19) ; chr17:g.40628829C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628829C>G , CM000679.2:g.40628829C>G	GRCh38
NC_000017.10:g.38785081C>G , CM000679.1:g.38785081C>G	GRCh37
NC_000017.9:g.36038607C>G	NCBI36
NG_032163.1:g.24023G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*754G>C	ENSP00000466608.2:n.*754G>C
ENST00000348513.12:c.1192G>C MANE Select	ENSP00000323967.6:p.Glu398Gln
ENST00000377808.9:c.*179G>C	ENSP00000367039.4:n.*179G>C
ENST00000400122.8:c.*179G>C	ENSP00000411607.2:n.*179G>C
ENST00000469334.6:n.1790G>C
ENST00000578044.6:c.982G>C	ENSP00000464511.1:p.Glu328Gln
ENST00000578112.6:c.*989G>C	ENSP00000464501.1:n.*989G>C
ENST00000580419.6:c.*171G>C	ENSP00000462475.2:n.*171G>C
ENST00000642576.1:n.2335G>C
ENST00000643030.1:n.1815G>C
ENST00000643255.1:c.*3256G>C	ENSP00000493957.1:n.*3256G>C
ENST00000643318.1:c.982G>C	ENSP00000494771.1:p.Glu328Gln
ENST00000643378.1:n.1747G>C
ENST00000643683.1:c.1192G>C	ENSP00000496094.1:p.Glu398Gln
ENST00000643893.1:n.1485G>C
ENST00000644443.1:n.3080G>C
ENST00000644523.1:n.1238G>C
ENST00000644527.1:c.964G>C	ENSP00000493974.1:p.Glu322Gln
ENST00000644701.1:c.*179G>C	ENSP00000496097.1:n.*179G>C
ENST00000644909.1:c.*461G>C	ENSP00000493649.1:n.*461G>C
ENST00000645152.1:n.1855G>C
ENST00000645227.1:c.*880G>C	ENSP00000495021.1:n.*880G>C
ENST00000646242.1:n.7104G>C
ENST00000646283.1:c.1000G>C	ENSP00000494537.1:p.Glu334Gln
ENST00000646401.1:n.2558G>C
ENST00000646448.1:n.2466G>C
ENST00000646856.1:c.*1068G>C	ENSP00000494505.1:n.*1068G>C
ENST00000647294.1:c.*1122G>C	ENSP00000494815.1:n.*1122G>C
ENST00000647508.1:c.1087G>C	ENSP00000496445.1:p.Glu363Gln
ENST00000647515.1:c.*723G>C	ENSP00000495857.1:n.*723G>C
ENST00000348513.10:c.1192G>C	ENSP00000323967.6:p.Glu398Gln
ENST00000377808.8:c.*179G>C	ENSP00000367039.4:n.*179G>C
ENST00000400122.7:c.*179G>C	ENSP00000411607.2:n.*179G>C
ENST00000431889.6:c.1138G>C	ENSP00000445370.1:p.Glu380Gln
ENST00000469334.5:n.1779G>C
ENST00000476049.1:c.*1540G>C	ENSP00000463483.1:n.*1540G>C
ENST00000578044.5:c.982G>C	ENSP00000464511.1:p.Glu328Gln
ENST00000578112.5:c.*989G>C	ENSP00000464501.1:n.*989G>C
ENST00000580419.5:c.1087G>C	ENSP00000462475.1:p.Glu363Gln
NM_003079.4:c.1192G>C	NP_003070.3:p.Glu398Gln
NM_003079.5:c.1192G>C MANE Select	NP_003070.3:p.Glu398Gln