Canonical Allele Identifier: CA399360726

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785049C>G (hg19) ; chr17:g.40628797C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628797C>G , CM000679.2:g.40628797C>G	GRCh38
NC_000017.10:g.38785049C>G , CM000679.1:g.38785049C>G	GRCh37
NC_000017.9:g.36038575C>G	NCBI36
NG_032163.1:g.24055G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*786G>C	ENSP00000466608.2:n.*786G>C
ENST00000348513.12:c.1224G>C MANE Select	ENSP00000323967.6:p.Glu408Asp
ENST00000377808.9:c.*211G>C	ENSP00000367039.4:n.*211G>C
ENST00000400122.8:c.*211G>C	ENSP00000411607.2:n.*211G>C
ENST00000469334.6:n.1822G>C
ENST00000578044.6:c.1014G>C	ENSP00000464511.1:p.Glu338Asp
ENST00000578112.6:c.*1021G>C	ENSP00000464501.1:n.*1021G>C
ENST00000580419.6:c.*203G>C	ENSP00000462475.2:n.*203G>C
ENST00000642576.1:n.2367G>C
ENST00000643030.1:n.1847G>C
ENST00000643255.1:c.*3288G>C	ENSP00000493957.1:n.*3288G>C
ENST00000643318.1:c.1014G>C	ENSP00000494771.1:p.Glu338Asp
ENST00000643378.1:n.1779G>C
ENST00000643683.1:c.1224G>C	ENSP00000496094.1:p.Glu408Asp
ENST00000643893.1:n.1517G>C
ENST00000644443.1:n.3112G>C
ENST00000644523.1:n.1270G>C
ENST00000644527.1:c.996G>C	ENSP00000493974.1:p.Glu332Asp
ENST00000644701.1:c.*211G>C	ENSP00000496097.1:n.*211G>C
ENST00000644909.1:c.*493G>C	ENSP00000493649.1:n.*493G>C
ENST00000645152.1:n.1887G>C
ENST00000645227.1:c.*912G>C	ENSP00000495021.1:n.*912G>C
ENST00000646242.1:n.7136G>C
ENST00000646283.1:c.1032G>C	ENSP00000494537.1:p.Glu344Asp
ENST00000646401.1:n.2590G>C
ENST00000646448.1:n.2498G>C
ENST00000646856.1:c.*1100G>C	ENSP00000494505.1:n.*1100G>C
ENST00000647294.1:c.*1154G>C	ENSP00000494815.1:n.*1154G>C
ENST00000647508.1:c.1119G>C	ENSP00000496445.1:p.Glu373Asp
ENST00000647515.1:c.*755G>C	ENSP00000495857.1:n.*755G>C
ENST00000348513.10:c.1224G>C	ENSP00000323967.6:p.Glu408Asp
ENST00000377808.8:c.*211G>C	ENSP00000367039.4:n.*211G>C
ENST00000400122.7:c.*211G>C	ENSP00000411607.2:n.*211G>C
ENST00000431889.6:c.1170G>C	ENSP00000445370.1:p.Glu390Asp
ENST00000469334.5:n.1811G>C
ENST00000476049.1:c.*1572G>C	ENSP00000463483.1:n.*1572G>C
ENST00000578044.5:c.1014G>C	ENSP00000464511.1:p.Glu338Asp
ENST00000578112.5:c.*1021G>C	ENSP00000464501.1:n.*1021G>C
ENST00000580419.5:c.1119G>C	ENSP00000462475.1:p.Glu373Asp
NM_003079.4:c.1224G>C	NP_003070.3:p.Glu408Asp
NM_003079.5:c.1224G>C MANE Select	NP_003070.3:p.Glu408Asp