Canonical Allele Identifier: CA2637750217

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628738-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628738T>A , CM000679.2:g.40628738T>A	GRCh38
NC_000017.10:g.38784990T>A , CM000679.1:g.38784990T>A	GRCh37
NC_000017.9:g.36038516T>A	NCBI36
NG_032163.1:g.24114A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*845A>T	ENSP00000466608.2:n.*845A>T
ENST00000348513.12:c.*47A>T MANE Select	ENSP00000323967.6:n.*47A>T
ENST00000377808.9:c.*270A>T	ENSP00000367039.4:n.*270A>T
ENST00000400122.8:c.*270A>T	ENSP00000411607.2:n.*270A>T
ENST00000469334.6:n.1881A>T
ENST00000578112.6:c.*1080A>T	ENSP00000464501.1:n.*1080A>T
ENST00000580419.6:c.*262A>T	ENSP00000462475.2:n.*262A>T
ENST00000642576.1:n.2426A>T
ENST00000643030.1:n.1906A>T
ENST00000643255.1:c.*3347A>T	ENSP00000493957.1:n.*3347A>T
ENST00000643318.1:c.*47A>T	ENSP00000494771.1:n.*47A>T
ENST00000643378.1:n.1838A>T
ENST00000643683.1:c.*47A>T	ENSP00000496094.1:n.*47A>T
ENST00000643893.1:n.1576A>T
ENST00000644443.1:n.3171A>T
ENST00000644523.1:n.1329A>T
ENST00000644527.1:c.*47A>T	ENSP00000493974.1:n.*47A>T
ENST00000644701.1:c.*270A>T	ENSP00000496097.1:n.*270A>T
ENST00000644909.1:c.*552A>T	ENSP00000493649.1:n.*552A>T
ENST00000645152.1:n.1946A>T
ENST00000645227.1:c.*971A>T	ENSP00000495021.1:n.*971A>T
ENST00000646242.1:n.7195A>T
ENST00000646283.1:c.*47A>T	ENSP00000494537.1:n.*47A>T
ENST00000646401.1:n.2649A>T
ENST00000646856.1:c.*1159A>T	ENSP00000494505.1:n.*1159A>T
ENST00000647294.1:c.*1213A>T	ENSP00000494815.1:n.*1213A>T
ENST00000647508.1:c.*47A>T	ENSP00000496445.1:n.*47A>T
ENST00000647515.1:c.*814A>T	ENSP00000495857.1:n.*814A>T
ENST00000348513.10:c.*47A>T	ENSP00000323967.6:n.*47A>T
ENST00000431889.6:c.*47A>T	ENSP00000445370.1:n.*47A>T
ENST00000469334.5:n.1870A>T
ENST00000578112.5:c.*1080A>T	ENSP00000464501.1:n.*1080A>T
NM_003079.4:c.*47A>T	NP_003070.3:n.*47A>T
NM_003079.5:c.*47A>T MANE Select	NP_003070.3:n.*47A>T