Canonical Allele Identifier: CA2576261816

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628737A>T , CM000679.2:g.40628737A>T	GRCh38
NC_000017.10:g.38784989A>T , CM000679.1:g.38784989A>T	GRCh37
NC_000017.9:g.36038515A>T	NCBI36
NG_032163.1:g.24115T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*846T>A	ENSP00000466608.2:n.*846T>A
ENST00000348513.12:c.*48T>A MANE Select	ENSP00000323967.6:n.*48T>A
ENST00000377808.9:c.*271T>A	ENSP00000367039.4:n.*271T>A
ENST00000400122.8:c.*271T>A	ENSP00000411607.2:n.*271T>A
ENST00000469334.6:n.1882T>A
ENST00000578112.6:c.*1081T>A	ENSP00000464501.1:n.*1081T>A
ENST00000580419.6:c.*263T>A	ENSP00000462475.2:n.*263T>A
ENST00000642576.1:n.2427T>A
ENST00000643030.1:n.1907T>A
ENST00000643255.1:c.*3348T>A	ENSP00000493957.1:n.*3348T>A
ENST00000643318.1:c.*48T>A	ENSP00000494771.1:n.*48T>A
ENST00000643378.1:n.1839T>A
ENST00000643683.1:c.*48T>A	ENSP00000496094.1:n.*48T>A
ENST00000643893.1:n.1577T>A
ENST00000644443.1:n.3172T>A
ENST00000644523.1:n.1330T>A
ENST00000644527.1:c.*48T>A	ENSP00000493974.1:n.*48T>A
ENST00000644701.1:c.*271T>A	ENSP00000496097.1:n.*271T>A
ENST00000644909.1:c.*553T>A	ENSP00000493649.1:n.*553T>A
ENST00000645152.1:n.1947T>A
ENST00000645227.1:c.*972T>A	ENSP00000495021.1:n.*972T>A
ENST00000646242.1:n.7196T>A
ENST00000646283.1:c.*48T>A	ENSP00000494537.1:n.*48T>A
ENST00000646401.1:n.2650T>A
ENST00000646856.1:c.*1160T>A	ENSP00000494505.1:n.*1160T>A
ENST00000647294.1:c.*1214T>A	ENSP00000494815.1:n.*1214T>A
ENST00000647508.1:c.*48T>A	ENSP00000496445.1:n.*48T>A
ENST00000647515.1:c.*815T>A	ENSP00000495857.1:n.*815T>A
ENST00000348513.10:c.*48T>A	ENSP00000323967.6:n.*48T>A
ENST00000431889.6:c.*48T>A	ENSP00000445370.1:n.*48T>A
ENST00000469334.5:n.1871T>A
ENST00000578112.5:c.*1081T>A	ENSP00000464501.1:n.*1081T>A
NM_003079.4:c.*48T>A	NP_003070.3:n.*48T>A
NM_003079.5:c.*48T>A MANE Select	NP_003070.3:n.*48T>A