Canonical Allele Identifier: CA2637749979

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628405-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628405G>T , CM000679.2:g.40628405G>T	GRCh38
NC_000017.10:g.38784657G>T , CM000679.1:g.38784657G>T	GRCh37
NC_000017.9:g.36038183G>T	NCBI36
NG_032163.1:g.24447C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1178C>A	ENSP00000466608.2:n.*1178C>A
ENST00000348513.12:c.*380C>A MANE Select	ENSP00000323967.6:n.*380C>A
ENST00000377808.9:c.*603C>A	ENSP00000367039.4:n.*603C>A
ENST00000400122.8:c.*603C>A	ENSP00000411607.2:n.*603C>A
ENST00000469334.6:n.2214C>A
ENST00000578112.6:c.*1413C>A	ENSP00000464501.1:n.*1413C>A
ENST00000580419.6:c.*595C>A	ENSP00000462475.2:n.*595C>A
ENST00000642576.1:n.2759C>A
ENST00000643030.1:n.2239C>A
ENST00000643255.1:c.*3680C>A	ENSP00000493957.1:n.*3680C>A
ENST00000643318.1:c.*380C>A	ENSP00000494771.1:n.*380C>A
ENST00000643378.1:n.2171C>A
ENST00000643683.1:c.*380C>A	ENSP00000496094.1:n.*380C>A
ENST00000643893.1:n.1909C>A
ENST00000644443.1:n.3504C>A
ENST00000644523.1:n.1662C>A
ENST00000644527.1:c.*380C>A	ENSP00000493974.1:n.*380C>A
ENST00000644701.1:c.*603C>A	ENSP00000496097.1:n.*603C>A
ENST00000644909.1:c.*885C>A	ENSP00000493649.1:n.*885C>A
ENST00000645152.1:n.2279C>A
ENST00000645227.1:c.*1304C>A	ENSP00000495021.1:n.*1304C>A
ENST00000646242.1:n.7528C>A
ENST00000646283.1:c.*380C>A	ENSP00000494537.1:n.*380C>A
ENST00000646401.1:n.2982C>A
ENST00000646856.1:c.*1492C>A	ENSP00000494505.1:n.*1492C>A
ENST00000647294.1:c.*1546C>A	ENSP00000494815.1:n.*1546C>A
ENST00000647508.1:c.*380C>A	ENSP00000496445.1:n.*380C>A
ENST00000647515.1:c.*1147C>A	ENSP00000495857.1:n.*1147C>A
ENST00000348513.10:c.*380C>A	ENSP00000323967.6:n.*380C>A
ENST00000578112.5:c.*1413C>A	ENSP00000464501.1:n.*1413C>A
NM_003079.4:c.*380C>A	NP_003070.3:n.*380C>A
NM_003079.5:c.*380C>A MANE Select	NP_003070.3:n.*380C>A