Canonical Allele Identifier: CA499962706

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785073T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628821T>G , CM000679.2:g.40628821T>G	GRCh38
NC_000017.10:g.38785073T>G , CM000679.1:g.38785073T>G	GRCh37
NC_000017.9:g.36038599T>G	NCBI36
NG_032163.1:g.24031A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*762A>C	ENSP00000466608.2:n.*762A>C
ENST00000348513.12:c.1200A>C MANE Select	ENSP00000323967.6:p.Pro400=
ENST00000377808.9:c.*187A>C	ENSP00000367039.4:n.*187A>C
ENST00000400122.8:c.*187A>C	ENSP00000411607.2:n.*187A>C
ENST00000469334.6:n.1798A>C
ENST00000578044.6:c.990A>C	ENSP00000464511.1:p.Pro330=
ENST00000578112.6:c.*997A>C	ENSP00000464501.1:n.*997A>C
ENST00000580419.6:c.*179A>C	ENSP00000462475.2:n.*179A>C
ENST00000642576.1:n.2343A>C
ENST00000643030.1:n.1823A>C
ENST00000643255.1:c.*3264A>C	ENSP00000493957.1:n.*3264A>C
ENST00000643318.1:c.990A>C	ENSP00000494771.1:p.Pro330=
ENST00000643378.1:n.1755A>C
ENST00000643683.1:c.1200A>C	ENSP00000496094.1:p.Pro400=
ENST00000643893.1:n.1493A>C
ENST00000644443.1:n.3088A>C
ENST00000644523.1:n.1246A>C
ENST00000644527.1:c.972A>C	ENSP00000493974.1:p.Pro324=
ENST00000644701.1:c.*187A>C	ENSP00000496097.1:n.*187A>C
ENST00000644909.1:c.*469A>C	ENSP00000493649.1:n.*469A>C
ENST00000645152.1:n.1863A>C
ENST00000645227.1:c.*888A>C	ENSP00000495021.1:n.*888A>C
ENST00000646242.1:n.7112A>C
ENST00000646283.1:c.1008A>C	ENSP00000494537.1:p.Pro336=
ENST00000646401.1:n.2566A>C
ENST00000646448.1:n.2474A>C
ENST00000646856.1:c.*1076A>C	ENSP00000494505.1:n.*1076A>C
ENST00000647294.1:c.*1130A>C	ENSP00000494815.1:n.*1130A>C
ENST00000647508.1:c.1095A>C	ENSP00000496445.1:p.Pro365=
ENST00000647515.1:c.*731A>C	ENSP00000495857.1:n.*731A>C
ENST00000348513.10:c.1200A>C	ENSP00000323967.6:p.Pro400=
ENST00000377808.8:c.*187A>C	ENSP00000367039.4:n.*187A>C
ENST00000400122.7:c.*187A>C	ENSP00000411607.2:n.*187A>C
ENST00000431889.6:c.1146A>C	ENSP00000445370.1:p.Pro382=
ENST00000469334.5:n.1787A>C
ENST00000476049.1:c.*1548A>C	ENSP00000463483.1:n.*1548A>C
ENST00000578044.5:c.990A>C	ENSP00000464511.1:p.Pro330=
ENST00000578112.5:c.*997A>C	ENSP00000464501.1:n.*997A>C
ENST00000580419.5:c.1095A>C	ENSP00000462475.1:p.Pro365=
NM_003079.4:c.1200A>C	NP_003070.3:p.Pro400=
NM_003079.5:c.1200A>C MANE Select	NP_003070.3:p.Pro400=