Canonical Allele Identifier: CA2809468876

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628525T>G , CM000679.2:g.40628525T>G	GRCh38
NC_000017.10:g.38784777T>G , CM000679.1:g.38784777T>G	GRCh37
NC_000017.9:g.36038303T>G	NCBI36
NG_032163.1:g.24327A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1058A>C	ENSP00000466608.2:n.*1058A>C
ENST00000348513.12:c.*260A>C MANE Select	ENSP00000323967.6:n.*260A>C
ENST00000377808.9:c.*483A>C	ENSP00000367039.4:n.*483A>C
ENST00000400122.8:c.*483A>C	ENSP00000411607.2:n.*483A>C
ENST00000469334.6:n.2094A>C
ENST00000578112.6:c.*1293A>C	ENSP00000464501.1:n.*1293A>C
ENST00000580419.6:c.*475A>C	ENSP00000462475.2:n.*475A>C
ENST00000642576.1:n.2639A>C
ENST00000643030.1:n.2119A>C
ENST00000643255.1:c.*3560A>C	ENSP00000493957.1:n.*3560A>C
ENST00000643318.1:c.*260A>C	ENSP00000494771.1:n.*260A>C
ENST00000643378.1:n.2051A>C
ENST00000643683.1:c.*260A>C	ENSP00000496094.1:n.*260A>C
ENST00000643893.1:n.1789A>C
ENST00000644443.1:n.3384A>C
ENST00000644523.1:n.1542A>C
ENST00000644527.1:c.*260A>C	ENSP00000493974.1:n.*260A>C
ENST00000644701.1:c.*483A>C	ENSP00000496097.1:n.*483A>C
ENST00000644909.1:c.*765A>C	ENSP00000493649.1:n.*765A>C
ENST00000645152.1:n.2159A>C
ENST00000645227.1:c.*1184A>C	ENSP00000495021.1:n.*1184A>C
ENST00000646242.1:n.7408A>C
ENST00000646283.1:c.*260A>C	ENSP00000494537.1:n.*260A>C
ENST00000646401.1:n.2862A>C
ENST00000646856.1:c.*1372A>C	ENSP00000494505.1:n.*1372A>C
ENST00000647294.1:c.*1426A>C	ENSP00000494815.1:n.*1426A>C
ENST00000647508.1:c.*260A>C	ENSP00000496445.1:n.*260A>C
ENST00000647515.1:c.*1027A>C	ENSP00000495857.1:n.*1027A>C
ENST00000348513.10:c.*260A>C	ENSP00000323967.6:n.*260A>C
ENST00000431889.6:c.*260A>C	ENSP00000445370.1:n.*260A>C
ENST00000469334.5:n.2083A>C
ENST00000578112.5:c.*1293A>C	ENSP00000464501.1:n.*1293A>C
NM_003079.4:c.*260A>C	NP_003070.3:n.*260A>C
NM_003079.5:c.*260A>C MANE Select	NP_003070.3:n.*260A>C