Canonical Allele Identifier: CA2576261820

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628753A>C , CM000679.2:g.40628753A>C	GRCh38
NC_000017.10:g.38785005A>C , CM000679.1:g.38785005A>C	GRCh37
NC_000017.9:g.36038531A>C	NCBI36
NG_032163.1:g.24099T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*830T>G	ENSP00000466608.2:n.*830T>G
ENST00000348513.12:c.*32T>G MANE Select	ENSP00000323967.6:n.*32T>G
ENST00000377808.9:c.*255T>G	ENSP00000367039.4:n.*255T>G
ENST00000400122.8:c.*255T>G	ENSP00000411607.2:n.*255T>G
ENST00000469334.6:n.1866T>G
ENST00000578112.6:c.*1065T>G	ENSP00000464501.1:n.*1065T>G
ENST00000580419.6:c.*247T>G	ENSP00000462475.2:n.*247T>G
ENST00000642576.1:n.2411T>G
ENST00000643030.1:n.1891T>G
ENST00000643255.1:c.*3332T>G	ENSP00000493957.1:n.*3332T>G
ENST00000643318.1:c.*32T>G	ENSP00000494771.1:n.*32T>G
ENST00000643378.1:n.1823T>G
ENST00000643683.1:c.*32T>G	ENSP00000496094.1:n.*32T>G
ENST00000643893.1:n.1561T>G
ENST00000644443.1:n.3156T>G
ENST00000644523.1:n.1314T>G
ENST00000644527.1:c.*32T>G	ENSP00000493974.1:n.*32T>G
ENST00000644701.1:c.*255T>G	ENSP00000496097.1:n.*255T>G
ENST00000644909.1:c.*537T>G	ENSP00000493649.1:n.*537T>G
ENST00000645152.1:n.1931T>G
ENST00000645227.1:c.*956T>G	ENSP00000495021.1:n.*956T>G
ENST00000646242.1:n.7180T>G
ENST00000646283.1:c.*32T>G	ENSP00000494537.1:n.*32T>G
ENST00000646401.1:n.2634T>G
ENST00000646856.1:c.*1144T>G	ENSP00000494505.1:n.*1144T>G
ENST00000647294.1:c.*1198T>G	ENSP00000494815.1:n.*1198T>G
ENST00000647508.1:c.*32T>G	ENSP00000496445.1:n.*32T>G
ENST00000647515.1:c.*799T>G	ENSP00000495857.1:n.*799T>G
ENST00000348513.10:c.*32T>G	ENSP00000323967.6:n.*32T>G
ENST00000431889.6:c.*32T>G	ENSP00000445370.1:n.*32T>G
ENST00000469334.5:n.1855T>G
ENST00000578112.5:c.*1065T>G	ENSP00000464501.1:n.*1065T>G
NM_003079.4:c.*32T>G	NP_003070.3:n.*32T>G
NM_003079.5:c.*32T>G MANE Select	NP_003070.3:n.*32T>G