Canonical Allele Identifier: CA2637750131

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628642-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628642A>T , CM000679.2:g.40628642A>T	GRCh38
NC_000017.10:g.38784894A>T , CM000679.1:g.38784894A>T	GRCh37
NC_000017.9:g.36038420A>T	NCBI36
NG_032163.1:g.24210T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*941T>A	ENSP00000466608.2:n.*941T>A
ENST00000348513.12:c.*143T>A MANE Select	ENSP00000323967.6:n.*143T>A
ENST00000377808.9:c.*366T>A	ENSP00000367039.4:n.*366T>A
ENST00000400122.8:c.*366T>A	ENSP00000411607.2:n.*366T>A
ENST00000469334.6:n.1977T>A
ENST00000578112.6:c.*1176T>A	ENSP00000464501.1:n.*1176T>A
ENST00000580419.6:c.*358T>A	ENSP00000462475.2:n.*358T>A
ENST00000642576.1:n.2522T>A
ENST00000643030.1:n.2002T>A
ENST00000643255.1:c.*3443T>A	ENSP00000493957.1:n.*3443T>A
ENST00000643318.1:c.*143T>A	ENSP00000494771.1:n.*143T>A
ENST00000643378.1:n.1934T>A
ENST00000643683.1:c.*143T>A	ENSP00000496094.1:n.*143T>A
ENST00000643893.1:n.1672T>A
ENST00000644443.1:n.3267T>A
ENST00000644523.1:n.1425T>A
ENST00000644527.1:c.*143T>A	ENSP00000493974.1:n.*143T>A
ENST00000644701.1:c.*366T>A	ENSP00000496097.1:n.*366T>A
ENST00000644909.1:c.*648T>A	ENSP00000493649.1:n.*648T>A
ENST00000645152.1:n.2042T>A
ENST00000645227.1:c.*1067T>A	ENSP00000495021.1:n.*1067T>A
ENST00000646242.1:n.7291T>A
ENST00000646283.1:c.*143T>A	ENSP00000494537.1:n.*143T>A
ENST00000646401.1:n.2745T>A
ENST00000646856.1:c.*1255T>A	ENSP00000494505.1:n.*1255T>A
ENST00000647294.1:c.*1309T>A	ENSP00000494815.1:n.*1309T>A
ENST00000647508.1:c.*143T>A	ENSP00000496445.1:n.*143T>A
ENST00000647515.1:c.*910T>A	ENSP00000495857.1:n.*910T>A
ENST00000348513.10:c.*143T>A	ENSP00000323967.6:n.*143T>A
ENST00000431889.6:c.*143T>A	ENSP00000445370.1:n.*143T>A
ENST00000469334.5:n.1966T>A
ENST00000578112.5:c.*1176T>A	ENSP00000464501.1:n.*1176T>A
NM_003079.4:c.*143T>A	NP_003070.3:n.*143T>A
NM_003079.5:c.*143T>A MANE Select	NP_003070.3:n.*143T>A