Canonical Allele Identifier: CA2637753259

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40631726-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631726C>A , CM000679.2:g.40631726C>A	GRCh38
NC_000017.10:g.38787978C>A , CM000679.1:g.38787978C>A	GRCh37
NC_000017.9:g.36041504C>A	NCBI36
NG_032163.1:g.21126G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.715-33G>T	ENSP00000466608.2:n.715-33G>T
ENST00000348513.12:c.715-33G>T MANE Select	ENSP00000323967.6:n.715-33G>T
ENST00000377808.9:c.610-33G>T	ENSP00000367039.4:n.610-33G>T
ENST00000400122.8:c.505-33G>T	ENSP00000411607.2:n.505-33G>T
ENST00000447024.6:c.715-33G>T	ENSP00000392958.2:n.715-33G>T
ENST00000469334.6:n.1280G>T
ENST00000478349.7:c.667-33G>T	ENSP00000463216.2:n.667-33G>T
ENST00000578044.6:c.505-33G>T	ENSP00000464511.1:n.505-33G>T
ENST00000578112.6:c.*512-33G>T	ENSP00000464501.1:n.*512-33G>T
ENST00000580419.6:c.610-33G>T	ENSP00000462475.2:n.610-33G>T
ENST00000580654.6:c.661-33G>T	ENSP00000464061.2:n.661-33G>T
ENST00000642459.1:c.505-33G>T	ENSP00000496546.1:n.505-33G>T
ENST00000642576.1:n.1158G>T
ENST00000643030.1:n.671-33G>T
ENST00000643255.1:c.*2779-33G>T	ENSP00000493957.1:n.*2779-33G>T
ENST00000643318.1:c.505-33G>T	ENSP00000494771.1:n.505-33G>T
ENST00000643378.1:n.1237G>T
ENST00000643580.1:n.36G>T
ENST00000643683.1:c.715-33G>T	ENSP00000496094.1:n.715-33G>T
ENST00000643893.1:n.1008-33G>T
ENST00000644443.1:n.1903G>T
ENST00000644523.1:n.761-33G>T
ENST00000644527.1:c.505-33G>T	ENSP00000493974.1:n.505-33G>T
ENST00000644701.1:c.715-33G>T	ENSP00000496097.1:n.715-33G>T
ENST00000644909.1:c.332-33G>T	ENSP00000493649.1:n.332-33G>T
ENST00000645104.1:c.610-33G>T	ENSP00000496311.1:n.610-33G>T
ENST00000645152.1:n.711-33G>T
ENST00000645227.1:c.*324-33G>T	ENSP00000495021.1:n.*324-33G>T
ENST00000646242.1:n.4874G>T
ENST00000646283.1:c.505-15G>T	ENSP00000494537.1:n.505-15G>T
ENST00000646401.1:n.1302G>T
ENST00000646448.1:n.1289G>T
ENST00000646482.1:c.715-33G>T	ENSP00000496661.1:n.715-33G>T
ENST00000646856.1:c.*512-33G>T	ENSP00000494505.1:n.*512-33G>T
ENST00000647294.1:c.*645-33G>T	ENSP00000494815.1:n.*645-33G>T
ENST00000647508.1:c.610-33G>T	ENSP00000496445.1:n.610-33G>T
ENST00000647515.1:c.505-33G>T	ENSP00000495857.1:n.505-33G>T
ENST00000264640.8:c.155-33G>T
ENST00000348513.10:c.715-33G>T	ENSP00000323967.6:n.715-33G>T
ENST00000377808.8:c.610-33G>T	ENSP00000367039.4:n.610-33G>T
ENST00000400122.7:c.505-33G>T	ENSP00000411607.2:n.505-33G>T
ENST00000431889.6:c.661-33G>T	ENSP00000445370.1:n.661-33G>T
ENST00000447024.5:c.97-33G>T	ENSP00000392958.1:n.97-33G>T
ENST00000469334.5:n.1269G>T
ENST00000476049.1:c.*1063-33G>T	ENSP00000463483.1:n.*1063-33G>T
ENST00000478349.6:c.667-33G>T	ENSP00000463216.1:n.667-33G>T
ENST00000578044.5:c.505-33G>T	ENSP00000464511.1:n.505-33G>T
ENST00000578112.5:c.*512-33G>T	ENSP00000464501.1:n.*512-33G>T
ENST00000580419.5:c.610-33G>T	ENSP00000462475.1:n.610-33G>T
NM_003079.4:c.715-33G>T	NP_003070.3:n.715-33G>T
NM_003079.5:c.715-33G>T MANE Select	NP_003070.3:n.715-33G>T