Canonical Allele Identifier: CA399361046

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785105C>G (hg19) ; chr17:g.40628853C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628853C>G , CM000679.2:g.40628853C>G	GRCh38
NC_000017.10:g.38785105C>G , CM000679.1:g.38785105C>G	GRCh37
NC_000017.9:g.36038631C>G	NCBI36
NG_032163.1:g.23999G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*730G>C	ENSP00000466608.2:n.*730G>C
ENST00000348513.12:c.1168G>C MANE Select	ENSP00000323967.6:p.Glu390Gln
ENST00000377808.9:c.*155G>C	ENSP00000367039.4:n.*155G>C
ENST00000400122.8:c.*155G>C	ENSP00000411607.2:n.*155G>C
ENST00000469334.6:n.1766G>C
ENST00000578044.6:c.958G>C	ENSP00000464511.1:p.Glu320Gln
ENST00000578112.6:c.*965G>C	ENSP00000464501.1:n.*965G>C
ENST00000580419.6:c.*147G>C	ENSP00000462475.2:n.*147G>C
ENST00000642576.1:n.2311G>C
ENST00000643030.1:n.1791G>C
ENST00000643255.1:c.*3232G>C	ENSP00000493957.1:n.*3232G>C
ENST00000643318.1:c.958G>C	ENSP00000494771.1:p.Glu320Gln
ENST00000643378.1:n.1723G>C
ENST00000643683.1:c.1168G>C	ENSP00000496094.1:p.Glu390Gln
ENST00000643893.1:n.1461G>C
ENST00000644443.1:n.3056G>C
ENST00000644523.1:n.1214G>C
ENST00000644527.1:c.940G>C	ENSP00000493974.1:p.Glu314Gln
ENST00000644701.1:c.*155G>C	ENSP00000496097.1:n.*155G>C
ENST00000644909.1:c.*437G>C	ENSP00000493649.1:n.*437G>C
ENST00000645152.1:n.1831G>C
ENST00000645227.1:c.*856G>C	ENSP00000495021.1:n.*856G>C
ENST00000646242.1:n.7080G>C
ENST00000646283.1:c.976G>C	ENSP00000494537.1:p.Glu326Gln
ENST00000646401.1:n.2534G>C
ENST00000646448.1:n.2442G>C
ENST00000646856.1:c.*1044G>C	ENSP00000494505.1:n.*1044G>C
ENST00000647294.1:c.*1098G>C	ENSP00000494815.1:n.*1098G>C
ENST00000647508.1:c.1063G>C	ENSP00000496445.1:p.Glu355Gln
ENST00000647515.1:c.*699G>C	ENSP00000495857.1:n.*699G>C
ENST00000348513.10:c.1168G>C	ENSP00000323967.6:p.Glu390Gln
ENST00000377808.8:c.*155G>C	ENSP00000367039.4:n.*155G>C
ENST00000400122.7:c.*155G>C	ENSP00000411607.2:n.*155G>C
ENST00000431889.6:c.1114G>C	ENSP00000445370.1:p.Glu372Gln
ENST00000469334.5:n.1755G>C
ENST00000476049.1:c.*1516G>C	ENSP00000463483.1:n.*1516G>C
ENST00000578044.5:c.958G>C	ENSP00000464511.1:p.Glu320Gln
ENST00000578112.5:c.*965G>C	ENSP00000464501.1:n.*965G>C
ENST00000580419.5:c.1063G>C	ENSP00000462475.1:p.Glu355Gln
NM_003079.4:c.1168G>C	NP_003070.3:p.Glu390Gln
NM_003079.5:c.1168G>C MANE Select	NP_003070.3:p.Glu390Gln