Canonical Allele Identifier: CA2637750022

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628471-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628471T>C , CM000679.2:g.40628471T>C	GRCh38
NC_000017.10:g.38784723T>C , CM000679.1:g.38784723T>C	GRCh37
NC_000017.9:g.36038249T>C	NCBI36
NG_032163.1:g.24381A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1112A>G	ENSP00000466608.2:n.*1112A>G
ENST00000348513.12:c.*314A>G MANE Select	ENSP00000323967.6:n.*314A>G
ENST00000377808.9:c.*537A>G	ENSP00000367039.4:n.*537A>G
ENST00000400122.8:c.*537A>G	ENSP00000411607.2:n.*537A>G
ENST00000469334.6:n.2148A>G
ENST00000578112.6:c.*1347A>G	ENSP00000464501.1:n.*1347A>G
ENST00000580419.6:c.*529A>G	ENSP00000462475.2:n.*529A>G
ENST00000642576.1:n.2693A>G
ENST00000643030.1:n.2173A>G
ENST00000643255.1:c.*3614A>G	ENSP00000493957.1:n.*3614A>G
ENST00000643318.1:c.*314A>G	ENSP00000494771.1:n.*314A>G
ENST00000643378.1:n.2105A>G
ENST00000643683.1:c.*314A>G	ENSP00000496094.1:n.*314A>G
ENST00000643893.1:n.1843A>G
ENST00000644443.1:n.3438A>G
ENST00000644523.1:n.1596A>G
ENST00000644527.1:c.*314A>G	ENSP00000493974.1:n.*314A>G
ENST00000644701.1:c.*537A>G	ENSP00000496097.1:n.*537A>G
ENST00000644909.1:c.*819A>G	ENSP00000493649.1:n.*819A>G
ENST00000645152.1:n.2213A>G
ENST00000645227.1:c.*1238A>G	ENSP00000495021.1:n.*1238A>G
ENST00000646242.1:n.7462A>G
ENST00000646283.1:c.*314A>G	ENSP00000494537.1:n.*314A>G
ENST00000646401.1:n.2916A>G
ENST00000646856.1:c.*1426A>G	ENSP00000494505.1:n.*1426A>G
ENST00000647294.1:c.*1480A>G	ENSP00000494815.1:n.*1480A>G
ENST00000647508.1:c.*314A>G	ENSP00000496445.1:n.*314A>G
ENST00000647515.1:c.*1081A>G	ENSP00000495857.1:n.*1081A>G
ENST00000348513.10:c.*314A>G	ENSP00000323967.6:n.*314A>G
ENST00000431889.6:c.*314A>G	ENSP00000445370.1:n.*314A>G
ENST00000578112.5:c.*1347A>G	ENSP00000464501.1:n.*1347A>G
NM_003079.4:c.*314A>G	NP_003070.3:n.*314A>G
NM_003079.5:c.*314A>G MANE Select	NP_003070.3:n.*314A>G