Canonical Allele Identifier: CA2259640360

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037056511
• gnomAD v4: 17-40628419-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628419A>C , CM000679.2:g.40628419A>C	GRCh38
NC_000017.10:g.38784671A>C , CM000679.1:g.38784671A>C	GRCh37
NC_000017.9:g.36038197A>C	NCBI36
NG_032163.1:g.24433T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1164T>G	ENSP00000466608.2:n.*1164T>G
ENST00000348513.12:c.*366T>G MANE Select	ENSP00000323967.6:n.*366T>G
ENST00000377808.9:c.*589T>G	ENSP00000367039.4:n.*589T>G
ENST00000400122.8:c.*589T>G	ENSP00000411607.2:n.*589T>G
ENST00000469334.6:n.2200T>G
ENST00000578112.6:c.*1399T>G	ENSP00000464501.1:n.*1399T>G
ENST00000580419.6:c.*581T>G	ENSP00000462475.2:n.*581T>G
ENST00000642576.1:n.2745T>G
ENST00000643030.1:n.2225T>G
ENST00000643255.1:c.*3666T>G	ENSP00000493957.1:n.*3666T>G
ENST00000643318.1:c.*366T>G	ENSP00000494771.1:n.*366T>G
ENST00000643378.1:n.2157T>G
ENST00000643683.1:c.*366T>G	ENSP00000496094.1:n.*366T>G
ENST00000643893.1:n.1895T>G
ENST00000644443.1:n.3490T>G
ENST00000644523.1:n.1648T>G
ENST00000644527.1:c.*366T>G	ENSP00000493974.1:n.*366T>G
ENST00000644701.1:c.*589T>G	ENSP00000496097.1:n.*589T>G
ENST00000644909.1:c.*871T>G	ENSP00000493649.1:n.*871T>G
ENST00000645152.1:n.2265T>G
ENST00000645227.1:c.*1290T>G	ENSP00000495021.1:n.*1290T>G
ENST00000646242.1:n.7514T>G
ENST00000646283.1:c.*366T>G	ENSP00000494537.1:n.*366T>G
ENST00000646401.1:n.2968T>G
ENST00000646856.1:c.*1478T>G	ENSP00000494505.1:n.*1478T>G
ENST00000647294.1:c.*1532T>G	ENSP00000494815.1:n.*1532T>G
ENST00000647508.1:c.*366T>G	ENSP00000496445.1:n.*366T>G
ENST00000647515.1:c.*1133T>G	ENSP00000495857.1:n.*1133T>G
ENST00000348513.10:c.*366T>G	ENSP00000323967.6:n.*366T>G
ENST00000578112.5:c.*1399T>G	ENSP00000464501.1:n.*1399T>G
NM_003079.4:c.*366T>G	NP_003070.3:n.*366T>G
NM_003079.5:c.*366T>G MANE Select	NP_003070.3:n.*366T>G