Canonical Allele Identifier: CA2809468875

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628479T>C , CM000679.2:g.40628479T>C	GRCh38
NC_000017.10:g.38784731T>C , CM000679.1:g.38784731T>C	GRCh37
NC_000017.9:g.36038257T>C	NCBI36
NG_032163.1:g.24373A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1104A>G	ENSP00000466608.2:n.*1104A>G
ENST00000348513.12:c.*306A>G MANE Select	ENSP00000323967.6:n.*306A>G
ENST00000377808.9:c.*529A>G	ENSP00000367039.4:n.*529A>G
ENST00000400122.8:c.*529A>G	ENSP00000411607.2:n.*529A>G
ENST00000469334.6:n.2140A>G
ENST00000578112.6:c.*1339A>G	ENSP00000464501.1:n.*1339A>G
ENST00000580419.6:c.*521A>G	ENSP00000462475.2:n.*521A>G
ENST00000642576.1:n.2685A>G
ENST00000643030.1:n.2165A>G
ENST00000643255.1:c.*3606A>G	ENSP00000493957.1:n.*3606A>G
ENST00000643318.1:c.*306A>G	ENSP00000494771.1:n.*306A>G
ENST00000643378.1:n.2097A>G
ENST00000643683.1:c.*306A>G	ENSP00000496094.1:n.*306A>G
ENST00000643893.1:n.1835A>G
ENST00000644443.1:n.3430A>G
ENST00000644523.1:n.1588A>G
ENST00000644527.1:c.*306A>G	ENSP00000493974.1:n.*306A>G
ENST00000644701.1:c.*529A>G	ENSP00000496097.1:n.*529A>G
ENST00000644909.1:c.*811A>G	ENSP00000493649.1:n.*811A>G
ENST00000645152.1:n.2205A>G
ENST00000645227.1:c.*1230A>G	ENSP00000495021.1:n.*1230A>G
ENST00000646242.1:n.7454A>G
ENST00000646283.1:c.*306A>G	ENSP00000494537.1:n.*306A>G
ENST00000646401.1:n.2908A>G
ENST00000646856.1:c.*1418A>G	ENSP00000494505.1:n.*1418A>G
ENST00000647294.1:c.*1472A>G	ENSP00000494815.1:n.*1472A>G
ENST00000647508.1:c.*306A>G	ENSP00000496445.1:n.*306A>G
ENST00000647515.1:c.*1073A>G	ENSP00000495857.1:n.*1073A>G
ENST00000348513.10:c.*306A>G	ENSP00000323967.6:n.*306A>G
ENST00000431889.6:c.*306A>G	ENSP00000445370.1:n.*306A>G
ENST00000578112.5:c.*1339A>G	ENSP00000464501.1:n.*1339A>G
NM_003079.4:c.*306A>G	NP_003070.3:n.*306A>G
NM_003079.5:c.*306A>G MANE Select	NP_003070.3:n.*306A>G