Canonical Allele Identifier: CA399360891

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785079C>A (hg19) ; chr17:g.40628827C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628827C>A , CM000679.2:g.40628827C>A	GRCh38
NC_000017.10:g.38785079C>A , CM000679.1:g.38785079C>A	GRCh37
NC_000017.9:g.36038605C>A	NCBI36
NG_032163.1:g.24025G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*756G>T	ENSP00000466608.2:n.*756G>T
ENST00000348513.12:c.1194G>T MANE Select	ENSP00000323967.6:p.Glu398Asp
ENST00000377808.9:c.*181G>T	ENSP00000367039.4:n.*181G>T
ENST00000400122.8:c.*181G>T	ENSP00000411607.2:n.*181G>T
ENST00000469334.6:n.1792G>T
ENST00000578044.6:c.984G>T	ENSP00000464511.1:p.Glu328Asp
ENST00000578112.6:c.*991G>T	ENSP00000464501.1:n.*991G>T
ENST00000580419.6:c.*173G>T	ENSP00000462475.2:n.*173G>T
ENST00000642576.1:n.2337G>T
ENST00000643030.1:n.1817G>T
ENST00000643255.1:c.*3258G>T	ENSP00000493957.1:n.*3258G>T
ENST00000643318.1:c.984G>T	ENSP00000494771.1:p.Glu328Asp
ENST00000643378.1:n.1749G>T
ENST00000643683.1:c.1194G>T	ENSP00000496094.1:p.Glu398Asp
ENST00000643893.1:n.1487G>T
ENST00000644443.1:n.3082G>T
ENST00000644523.1:n.1240G>T
ENST00000644527.1:c.966G>T	ENSP00000493974.1:p.Glu322Asp
ENST00000644701.1:c.*181G>T	ENSP00000496097.1:n.*181G>T
ENST00000644909.1:c.*463G>T	ENSP00000493649.1:n.*463G>T
ENST00000645152.1:n.1857G>T
ENST00000645227.1:c.*882G>T	ENSP00000495021.1:n.*882G>T
ENST00000646242.1:n.7106G>T
ENST00000646283.1:c.1002G>T	ENSP00000494537.1:p.Glu334Asp
ENST00000646401.1:n.2560G>T
ENST00000646448.1:n.2468G>T
ENST00000646856.1:c.*1070G>T	ENSP00000494505.1:n.*1070G>T
ENST00000647294.1:c.*1124G>T	ENSP00000494815.1:n.*1124G>T
ENST00000647508.1:c.1089G>T	ENSP00000496445.1:p.Glu363Asp
ENST00000647515.1:c.*725G>T	ENSP00000495857.1:n.*725G>T
ENST00000348513.10:c.1194G>T	ENSP00000323967.6:p.Glu398Asp
ENST00000377808.8:c.*181G>T	ENSP00000367039.4:n.*181G>T
ENST00000400122.7:c.*181G>T	ENSP00000411607.2:n.*181G>T
ENST00000431889.6:c.1140G>T	ENSP00000445370.1:p.Glu380Asp
ENST00000469334.5:n.1781G>T
ENST00000476049.1:c.*1542G>T	ENSP00000463483.1:n.*1542G>T
ENST00000578044.5:c.984G>T	ENSP00000464511.1:p.Glu328Asp
ENST00000578112.5:c.*991G>T	ENSP00000464501.1:n.*991G>T
ENST00000580419.5:c.1089G>T	ENSP00000462475.1:p.Glu363Asp
NM_003079.4:c.1194G>T	NP_003070.3:p.Glu398Asp
NM_003079.5:c.1194G>T MANE Select	NP_003070.3:p.Glu398Asp