Canonical Allele Identifier: CA2593836942

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2143979776
• gnomAD v3: 17-40628549-G-C
• gnomAD v4: 17-40628549-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628549G>C , CM000679.2:g.40628549G>C	GRCh38
NC_000017.10:g.38784801G>C , CM000679.1:g.38784801G>C	GRCh37
NC_000017.9:g.36038327G>C	NCBI36
NG_032163.1:g.24303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1034C>G	ENSP00000466608.2:n.*1034C>G
ENST00000348513.12:c.*236C>G MANE Select	ENSP00000323967.6:n.*236C>G
ENST00000377808.9:c.*459C>G	ENSP00000367039.4:n.*459C>G
ENST00000400122.8:c.*459C>G	ENSP00000411607.2:n.*459C>G
ENST00000469334.6:n.2070C>G
ENST00000578112.6:c.*1269C>G	ENSP00000464501.1:n.*1269C>G
ENST00000580419.6:c.*451C>G	ENSP00000462475.2:n.*451C>G
ENST00000642576.1:n.2615C>G
ENST00000643030.1:n.2095C>G
ENST00000643255.1:c.*3536C>G	ENSP00000493957.1:n.*3536C>G
ENST00000643318.1:c.*236C>G	ENSP00000494771.1:n.*236C>G
ENST00000643378.1:n.2027C>G
ENST00000643683.1:c.*236C>G	ENSP00000496094.1:n.*236C>G
ENST00000643893.1:n.1765C>G
ENST00000644443.1:n.3360C>G
ENST00000644523.1:n.1518C>G
ENST00000644527.1:c.*236C>G	ENSP00000493974.1:n.*236C>G
ENST00000644701.1:c.*459C>G	ENSP00000496097.1:n.*459C>G
ENST00000644909.1:c.*741C>G	ENSP00000493649.1:n.*741C>G
ENST00000645152.1:n.2135C>G
ENST00000645227.1:c.*1160C>G	ENSP00000495021.1:n.*1160C>G
ENST00000646242.1:n.7384C>G
ENST00000646283.1:c.*236C>G	ENSP00000494537.1:n.*236C>G
ENST00000646401.1:n.2838C>G
ENST00000646856.1:c.*1348C>G	ENSP00000494505.1:n.*1348C>G
ENST00000647294.1:c.*1402C>G	ENSP00000494815.1:n.*1402C>G
ENST00000647508.1:c.*236C>G	ENSP00000496445.1:n.*236C>G
ENST00000647515.1:c.*1003C>G	ENSP00000495857.1:n.*1003C>G
ENST00000348513.10:c.*236C>G	ENSP00000323967.6:n.*236C>G
ENST00000431889.6:c.*236C>G	ENSP00000445370.1:n.*236C>G
ENST00000469334.5:n.2059C>G
ENST00000578112.5:c.*1269C>G	ENSP00000464501.1:n.*1269C>G
NM_003079.4:c.*236C>G	NP_003070.3:n.*236C>G
NM_003079.5:c.*236C>G MANE Select	NP_003070.3:n.*236C>G