Canonical Allele Identifier: CA2576261824

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628779C>A , CM000679.2:g.40628779C>A	GRCh38
NC_000017.10:g.38785031C>A , CM000679.1:g.38785031C>A	GRCh37
NC_000017.9:g.36038557C>A	NCBI36
NG_032163.1:g.24073G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*804G>T	ENSP00000466608.2:n.*804G>T
ENST00000348513.12:c.*6G>T MANE Select	ENSP00000323967.6:n.*6G>T
ENST00000377808.9:c.*229G>T	ENSP00000367039.4:n.*229G>T
ENST00000400122.8:c.*229G>T	ENSP00000411607.2:n.*229G>T
ENST00000469334.6:n.1840G>T
ENST00000578112.6:c.*1039G>T	ENSP00000464501.1:n.*1039G>T
ENST00000580419.6:c.*221G>T	ENSP00000462475.2:n.*221G>T
ENST00000642576.1:n.2385G>T
ENST00000643030.1:n.1865G>T
ENST00000643255.1:c.*3306G>T	ENSP00000493957.1:n.*3306G>T
ENST00000643318.1:c.*6G>T	ENSP00000494771.1:n.*6G>T
ENST00000643378.1:n.1797G>T
ENST00000643683.1:c.*6G>T	ENSP00000496094.1:n.*6G>T
ENST00000643893.1:n.1535G>T
ENST00000644443.1:n.3130G>T
ENST00000644523.1:n.1288G>T
ENST00000644527.1:c.*6G>T	ENSP00000493974.1:n.*6G>T
ENST00000644701.1:c.*229G>T	ENSP00000496097.1:n.*229G>T
ENST00000644909.1:c.*511G>T	ENSP00000493649.1:n.*511G>T
ENST00000645152.1:n.1905G>T
ENST00000645227.1:c.*930G>T	ENSP00000495021.1:n.*930G>T
ENST00000646242.1:n.7154G>T
ENST00000646283.1:c.*6G>T	ENSP00000494537.1:n.*6G>T
ENST00000646401.1:n.2608G>T
ENST00000646448.1:n.2516G>T
ENST00000646856.1:c.*1118G>T	ENSP00000494505.1:n.*1118G>T
ENST00000647294.1:c.*1172G>T	ENSP00000494815.1:n.*1172G>T
ENST00000647508.1:c.*6G>T	ENSP00000496445.1:n.*6G>T
ENST00000647515.1:c.*773G>T	ENSP00000495857.1:n.*773G>T
ENST00000348513.10:c.*6G>T	ENSP00000323967.6:n.*6G>T
ENST00000377808.8:c.*229G>T	ENSP00000367039.4:n.*229G>T
ENST00000400122.7:c.*229G>T	ENSP00000411607.2:n.*229G>T
ENST00000431889.6:c.*6G>T	ENSP00000445370.1:n.*6G>T
ENST00000469334.5:n.1829G>T
ENST00000578044.5:c.*6G>T	ENSP00000464511.1:n.*6G>T
ENST00000578112.5:c.*1039G>T	ENSP00000464501.1:n.*1039G>T
ENST00000580419.5:c.*6G>T	ENSP00000462475.1:n.*6G>T
NM_003079.4:c.*6G>T	NP_003070.3:n.*6G>T
NM_003079.5:c.*6G>T MANE Select	NP_003070.3:n.*6G>T