Canonical Allele Identifier: CA2637750030

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628489-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628489A>G , CM000679.2:g.40628489A>G	GRCh38
NC_000017.10:g.38784741A>G , CM000679.1:g.38784741A>G	GRCh37
NC_000017.9:g.36038267A>G	NCBI36
NG_032163.1:g.24363T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1094T>C	ENSP00000466608.2:n.*1094T>C
ENST00000348513.12:c.*296T>C MANE Select	ENSP00000323967.6:n.*296T>C
ENST00000377808.9:c.*519T>C	ENSP00000367039.4:n.*519T>C
ENST00000400122.8:c.*519T>C	ENSP00000411607.2:n.*519T>C
ENST00000469334.6:n.2130T>C
ENST00000578112.6:c.*1329T>C	ENSP00000464501.1:n.*1329T>C
ENST00000580419.6:c.*511T>C	ENSP00000462475.2:n.*511T>C
ENST00000642576.1:n.2675T>C
ENST00000643030.1:n.2155T>C
ENST00000643255.1:c.*3596T>C	ENSP00000493957.1:n.*3596T>C
ENST00000643318.1:c.*296T>C	ENSP00000494771.1:n.*296T>C
ENST00000643378.1:n.2087T>C
ENST00000643683.1:c.*296T>C	ENSP00000496094.1:n.*296T>C
ENST00000643893.1:n.1825T>C
ENST00000644443.1:n.3420T>C
ENST00000644523.1:n.1578T>C
ENST00000644527.1:c.*296T>C	ENSP00000493974.1:n.*296T>C
ENST00000644701.1:c.*519T>C	ENSP00000496097.1:n.*519T>C
ENST00000644909.1:c.*801T>C	ENSP00000493649.1:n.*801T>C
ENST00000645152.1:n.2195T>C
ENST00000645227.1:c.*1220T>C	ENSP00000495021.1:n.*1220T>C
ENST00000646242.1:n.7444T>C
ENST00000646283.1:c.*296T>C	ENSP00000494537.1:n.*296T>C
ENST00000646401.1:n.2898T>C
ENST00000646856.1:c.*1408T>C	ENSP00000494505.1:n.*1408T>C
ENST00000647294.1:c.*1462T>C	ENSP00000494815.1:n.*1462T>C
ENST00000647508.1:c.*296T>C	ENSP00000496445.1:n.*296T>C
ENST00000647515.1:c.*1063T>C	ENSP00000495857.1:n.*1063T>C
ENST00000348513.10:c.*296T>C	ENSP00000323967.6:n.*296T>C
ENST00000431889.6:c.*296T>C	ENSP00000445370.1:n.*296T>C
ENST00000469334.5:n.2119T>C
ENST00000578112.5:c.*1329T>C	ENSP00000464501.1:n.*1329T>C
NM_003079.4:c.*296T>C	NP_003070.3:n.*296T>C
NM_003079.5:c.*296T>C MANE Select	NP_003070.3:n.*296T>C