Canonical Allele Identifier: CA399361033

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785103C>G (hg19) ; chr17:g.40628851C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628851C>G , CM000679.2:g.40628851C>G	GRCh38
NC_000017.10:g.38785103C>G , CM000679.1:g.38785103C>G	GRCh37
NC_000017.9:g.36038629C>G	NCBI36
NG_032163.1:g.24001G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*732G>C	ENSP00000466608.2:n.*732G>C
ENST00000348513.12:c.1170G>C MANE Select	ENSP00000323967.6:p.Glu390Asp
ENST00000377808.9:c.*157G>C	ENSP00000367039.4:n.*157G>C
ENST00000400122.8:c.*157G>C	ENSP00000411607.2:n.*157G>C
ENST00000469334.6:n.1768G>C
ENST00000578044.6:c.960G>C	ENSP00000464511.1:p.Glu320Asp
ENST00000578112.6:c.*967G>C	ENSP00000464501.1:n.*967G>C
ENST00000580419.6:c.*149G>C	ENSP00000462475.2:n.*149G>C
ENST00000642576.1:n.2313G>C
ENST00000643030.1:n.1793G>C
ENST00000643255.1:c.*3234G>C	ENSP00000493957.1:n.*3234G>C
ENST00000643318.1:c.960G>C	ENSP00000494771.1:p.Glu320Asp
ENST00000643378.1:n.1725G>C
ENST00000643683.1:c.1170G>C	ENSP00000496094.1:p.Glu390Asp
ENST00000643893.1:n.1463G>C
ENST00000644443.1:n.3058G>C
ENST00000644523.1:n.1216G>C
ENST00000644527.1:c.942G>C	ENSP00000493974.1:p.Glu314Asp
ENST00000644701.1:c.*157G>C	ENSP00000496097.1:n.*157G>C
ENST00000644909.1:c.*439G>C	ENSP00000493649.1:n.*439G>C
ENST00000645152.1:n.1833G>C
ENST00000645227.1:c.*858G>C	ENSP00000495021.1:n.*858G>C
ENST00000646242.1:n.7082G>C
ENST00000646283.1:c.978G>C	ENSP00000494537.1:p.Glu326Asp
ENST00000646401.1:n.2536G>C
ENST00000646448.1:n.2444G>C
ENST00000646856.1:c.*1046G>C	ENSP00000494505.1:n.*1046G>C
ENST00000647294.1:c.*1100G>C	ENSP00000494815.1:n.*1100G>C
ENST00000647508.1:c.1065G>C	ENSP00000496445.1:p.Glu355Asp
ENST00000647515.1:c.*701G>C	ENSP00000495857.1:n.*701G>C
ENST00000348513.10:c.1170G>C	ENSP00000323967.6:p.Glu390Asp
ENST00000377808.8:c.*157G>C	ENSP00000367039.4:n.*157G>C
ENST00000400122.7:c.*157G>C	ENSP00000411607.2:n.*157G>C
ENST00000431889.6:c.1116G>C	ENSP00000445370.1:p.Glu372Asp
ENST00000469334.5:n.1757G>C
ENST00000476049.1:c.*1518G>C	ENSP00000463483.1:n.*1518G>C
ENST00000578044.5:c.960G>C	ENSP00000464511.1:p.Glu320Asp
ENST00000578112.5:c.*967G>C	ENSP00000464501.1:n.*967G>C
ENST00000580419.5:c.1065G>C	ENSP00000462475.1:p.Glu355Asp
NM_003079.4:c.1170G>C	NP_003070.3:p.Glu390Asp
NM_003079.5:c.1170G>C MANE Select	NP_003070.3:p.Glu390Asp