Canonical Allele Identifier: CA2637750011

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628458-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628458T>C , CM000679.2:g.40628458T>C	GRCh38
NC_000017.10:g.38784710T>C , CM000679.1:g.38784710T>C	GRCh37
NC_000017.9:g.36038236T>C	NCBI36
NG_032163.1:g.24394A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1125A>G	ENSP00000466608.2:n.*1125A>G
ENST00000348513.12:c.*327A>G MANE Select	ENSP00000323967.6:n.*327A>G
ENST00000377808.9:c.*550A>G	ENSP00000367039.4:n.*550A>G
ENST00000400122.8:c.*550A>G	ENSP00000411607.2:n.*550A>G
ENST00000469334.6:n.2161A>G
ENST00000578112.6:c.*1360A>G	ENSP00000464501.1:n.*1360A>G
ENST00000580419.6:c.*542A>G	ENSP00000462475.2:n.*542A>G
ENST00000642576.1:n.2706A>G
ENST00000643030.1:n.2186A>G
ENST00000643255.1:c.*3627A>G	ENSP00000493957.1:n.*3627A>G
ENST00000643318.1:c.*327A>G	ENSP00000494771.1:n.*327A>G
ENST00000643378.1:n.2118A>G
ENST00000643683.1:c.*327A>G	ENSP00000496094.1:n.*327A>G
ENST00000643893.1:n.1856A>G
ENST00000644443.1:n.3451A>G
ENST00000644523.1:n.1609A>G
ENST00000644527.1:c.*327A>G	ENSP00000493974.1:n.*327A>G
ENST00000644701.1:c.*550A>G	ENSP00000496097.1:n.*550A>G
ENST00000644909.1:c.*832A>G	ENSP00000493649.1:n.*832A>G
ENST00000645152.1:n.2226A>G
ENST00000645227.1:c.*1251A>G	ENSP00000495021.1:n.*1251A>G
ENST00000646242.1:n.7475A>G
ENST00000646283.1:c.*327A>G	ENSP00000494537.1:n.*327A>G
ENST00000646401.1:n.2929A>G
ENST00000646856.1:c.*1439A>G	ENSP00000494505.1:n.*1439A>G
ENST00000647294.1:c.*1493A>G	ENSP00000494815.1:n.*1493A>G
ENST00000647508.1:c.*327A>G	ENSP00000496445.1:n.*327A>G
ENST00000647515.1:c.*1094A>G	ENSP00000495857.1:n.*1094A>G
ENST00000348513.10:c.*327A>G	ENSP00000323967.6:n.*327A>G
ENST00000578112.5:c.*1360A>G	ENSP00000464501.1:n.*1360A>G
NM_003079.4:c.*327A>G	NP_003070.3:n.*327A>G
NM_003079.5:c.*327A>G MANE Select	NP_003070.3:n.*327A>G