Canonical Allele Identifier: CA2637749973

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628393-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628393C>G , CM000679.2:g.40628393C>G	GRCh38
NC_000017.10:g.38784645C>G , CM000679.1:g.38784645C>G	GRCh37
NC_000017.9:g.36038171C>G	NCBI36
NG_032163.1:g.24459G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1190G>C	ENSP00000466608.2:n.*1190G>C
ENST00000348513.12:c.*392G>C MANE Select	ENSP00000323967.6:n.*392G>C
ENST00000377808.9:c.*615G>C	ENSP00000367039.4:n.*615G>C
ENST00000400122.8:c.*615G>C	ENSP00000411607.2:n.*615G>C
ENST00000469334.6:n.2226G>C
ENST00000578112.6:c.*1425G>C	ENSP00000464501.1:n.*1425G>C
ENST00000580419.6:c.*607G>C	ENSP00000462475.2:n.*607G>C
ENST00000642576.1:n.2771G>C
ENST00000643030.1:n.2251G>C
ENST00000643255.1:c.*3692G>C	ENSP00000493957.1:n.*3692G>C
ENST00000643318.1:c.*392G>C	ENSP00000494771.1:n.*392G>C
ENST00000643378.1:n.2183G>C
ENST00000643683.1:c.*392G>C	ENSP00000496094.1:n.*392G>C
ENST00000643893.1:n.1921G>C
ENST00000644443.1:n.3516G>C
ENST00000644523.1:n.1674G>C
ENST00000644527.1:c.*392G>C	ENSP00000493974.1:n.*392G>C
ENST00000644701.1:c.*615G>C	ENSP00000496097.1:n.*615G>C
ENST00000644909.1:c.*897G>C	ENSP00000493649.1:n.*897G>C
ENST00000645152.1:n.2291G>C
ENST00000645227.1:c.*1316G>C	ENSP00000495021.1:n.*1316G>C
ENST00000646242.1:n.7540G>C
ENST00000646283.1:c.*392G>C	ENSP00000494537.1:n.*392G>C
ENST00000646401.1:n.2994G>C
ENST00000646856.1:c.*1504G>C	ENSP00000494505.1:n.*1504G>C
ENST00000647294.1:c.*1558G>C	ENSP00000494815.1:n.*1558G>C
ENST00000647508.1:c.*392G>C	ENSP00000496445.1:n.*392G>C
ENST00000647515.1:c.*1159G>C	ENSP00000495857.1:n.*1159G>C
ENST00000348513.10:c.*392G>C	ENSP00000323967.6:n.*392G>C
ENST00000578112.5:c.*1425G>C	ENSP00000464501.1:n.*1425G>C
NM_003079.4:c.*392G>C	NP_003070.3:n.*392G>C
NM_003079.5:c.*392G>C MANE Select	NP_003070.3:n.*392G>C