Canonical Allele Identifier: CA499963959

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38787943T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631691T>G , CM000679.2:g.40631691T>G	GRCh38
NC_000017.10:g.38787943T>G , CM000679.1:g.38787943T>G	GRCh37
NC_000017.9:g.36041469T>G	NCBI36
NG_032163.1:g.21161A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.717A>C	ENSP00000466608.2:p.Arg239=
ENST00000348513.12:c.717A>C MANE Select	ENSP00000323967.6:p.Arg239=
ENST00000377808.9:c.612A>C	ENSP00000367039.4:p.Arg204=
ENST00000400122.8:c.507A>C	ENSP00000411607.2:p.Arg169=
ENST00000447024.6:c.717A>C	ENSP00000392958.2:p.Arg239=
ENST00000469334.6:n.1315A>C
ENST00000478349.7:c.669A>C	ENSP00000463216.2:p.Arg223=
ENST00000578044.6:c.507A>C	ENSP00000464511.1:p.Arg169=
ENST00000578112.6:c.*514A>C	ENSP00000464501.1:n.*514A>C
ENST00000580419.6:c.612A>C	ENSP00000462475.2:p.Arg204=
ENST00000580654.6:c.663A>C	ENSP00000464061.2:p.Arg221=
ENST00000642459.1:c.507A>C	ENSP00000496546.1:p.Arg169=
ENST00000642576.1:n.1193A>C
ENST00000643030.1:n.673A>C
ENST00000643255.1:c.*2781A>C	ENSP00000493957.1:n.*2781A>C
ENST00000643318.1:c.507A>C	ENSP00000494771.1:p.Arg169=
ENST00000643378.1:n.1272A>C
ENST00000643580.1:n.71A>C
ENST00000643683.1:c.717A>C	ENSP00000496094.1:p.Arg239=
ENST00000643893.1:n.1010A>C
ENST00000644443.1:n.1938A>C
ENST00000644523.1:n.763A>C
ENST00000644527.1:c.507A>C	ENSP00000493974.1:p.Arg169=
ENST00000644701.1:c.717A>C	ENSP00000496097.1:p.Arg239=
ENST00000644909.1:c.334A>C	ENSP00000493649.1:p.Lys112Gln
ENST00000645104.1:c.612A>C	ENSP00000496311.1:p.Arg204=
ENST00000645152.1:n.713A>C
ENST00000645227.1:c.*326A>C	ENSP00000495021.1:n.*326A>C
ENST00000646242.1:n.4909A>C
ENST00000646283.1:c.525A>C	ENSP00000494537.1:p.Arg175=
ENST00000646401.1:n.1337A>C
ENST00000646448.1:n.1324A>C
ENST00000646482.1:c.717A>C	ENSP00000496661.1:p.Arg239=
ENST00000646856.1:c.*514A>C	ENSP00000494505.1:n.*514A>C
ENST00000647294.1:c.*647A>C	ENSP00000494815.1:n.*647A>C
ENST00000647508.1:c.612A>C	ENSP00000496445.1:p.Arg204=
ENST00000647515.1:c.507A>C	ENSP00000495857.1:p.Arg169=
ENST00000264640.8:c.157A>C
ENST00000348513.10:c.717A>C	ENSP00000323967.6:p.Arg239=
ENST00000377808.8:c.612A>C	ENSP00000367039.4:p.Arg204=
ENST00000400122.7:c.507A>C	ENSP00000411607.2:p.Arg169=
ENST00000431889.6:c.663A>C	ENSP00000445370.1:p.Arg221=
ENST00000447024.5:c.99A>C	ENSP00000392958.1:p.Arg33=
ENST00000469334.5:n.1304A>C
ENST00000476049.1:c.*1065A>C	ENSP00000463483.1:n.*1065A>C
ENST00000478349.6:c.669A>C	ENSP00000463216.1:p.Arg223=
ENST00000578044.5:c.507A>C	ENSP00000464511.1:p.Arg169=
ENST00000578112.5:c.*514A>C	ENSP00000464501.1:n.*514A>C
ENST00000580419.5:c.612A>C	ENSP00000462475.1:p.Arg204=
NM_003079.4:c.717A>C	NP_003070.3:p.Arg239=
NM_003079.5:c.717A>C MANE Select	NP_003070.3:p.Arg239=