Canonical Allele Identifier: CA2259640342

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037055944
• gnomAD v4: 17-40628367-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628367C>T , CM000679.2:g.40628367C>T	GRCh38
NC_000017.10:g.38784619C>T , CM000679.1:g.38784619C>T	GRCh37
NC_000017.9:g.36038145C>T	NCBI36
NG_032163.1:g.24485G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1216G>A	ENSP00000466608.2:n.*1216G>A
ENST00000348513.12:c.*418G>A MANE Select	ENSP00000323967.6:n.*418G>A
ENST00000377808.9:c.*641G>A	ENSP00000367039.4:n.*641G>A
ENST00000400122.8:c.*641G>A	ENSP00000411607.2:n.*641G>A
ENST00000469334.6:n.2252G>A
ENST00000578112.6:c.*1451G>A	ENSP00000464501.1:n.*1451G>A
ENST00000580419.6:c.*633G>A	ENSP00000462475.2:n.*633G>A
ENST00000642576.1:n.2797G>A
ENST00000643030.1:n.2277G>A
ENST00000643255.1:c.*3718G>A	ENSP00000493957.1:n.*3718G>A
ENST00000643318.1:c.*418G>A	ENSP00000494771.1:n.*418G>A
ENST00000643378.1:n.2209G>A
ENST00000643683.1:c.*418G>A	ENSP00000496094.1:n.*418G>A
ENST00000643893.1:n.1947G>A
ENST00000644443.1:n.3542G>A
ENST00000644523.1:n.1700G>A
ENST00000644527.1:c.*418G>A	ENSP00000493974.1:n.*418G>A
ENST00000644701.1:c.*641G>A	ENSP00000496097.1:n.*641G>A
ENST00000644909.1:c.*923G>A	ENSP00000493649.1:n.*923G>A
ENST00000645152.1:n.2317G>A
ENST00000645227.1:c.*1342G>A	ENSP00000495021.1:n.*1342G>A
ENST00000646242.1:n.7566G>A
ENST00000646283.1:c.*418G>A	ENSP00000494537.1:n.*418G>A
ENST00000646401.1:n.3020G>A
ENST00000646856.1:c.*1530G>A	ENSP00000494505.1:n.*1530G>A
ENST00000647294.1:c.*1584G>A	ENSP00000494815.1:n.*1584G>A
ENST00000647508.1:c.*418G>A	ENSP00000496445.1:n.*418G>A
ENST00000647515.1:c.*1185G>A	ENSP00000495857.1:n.*1185G>A
ENST00000348513.10:c.*418G>A	ENSP00000323967.6:n.*418G>A
ENST00000578112.5:c.*1451G>A	ENSP00000464501.1:n.*1451G>A
NM_003079.4:c.*418G>A	NP_003070.3:n.*418G>A
NM_003079.5:c.*418G>A MANE Select	NP_003070.3:n.*418G>A