Canonical Allele Identifier: CA2637750199

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628707-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628707A>G , CM000679.2:g.40628707A>G	GRCh38
NC_000017.10:g.38784959A>G , CM000679.1:g.38784959A>G	GRCh37
NC_000017.9:g.36038485A>G	NCBI36
NG_032163.1:g.24145T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*876T>C	ENSP00000466608.2:n.*876T>C
ENST00000348513.12:c.*78T>C MANE Select	ENSP00000323967.6:n.*78T>C
ENST00000377808.9:c.*301T>C	ENSP00000367039.4:n.*301T>C
ENST00000400122.8:c.*301T>C	ENSP00000411607.2:n.*301T>C
ENST00000469334.6:n.1912T>C
ENST00000578112.6:c.*1111T>C	ENSP00000464501.1:n.*1111T>C
ENST00000580419.6:c.*293T>C	ENSP00000462475.2:n.*293T>C
ENST00000642576.1:n.2457T>C
ENST00000643030.1:n.1937T>C
ENST00000643255.1:c.*3378T>C	ENSP00000493957.1:n.*3378T>C
ENST00000643318.1:c.*78T>C	ENSP00000494771.1:n.*78T>C
ENST00000643378.1:n.1869T>C
ENST00000643683.1:c.*78T>C	ENSP00000496094.1:n.*78T>C
ENST00000643893.1:n.1607T>C
ENST00000644443.1:n.3202T>C
ENST00000644523.1:n.1360T>C
ENST00000644527.1:c.*78T>C	ENSP00000493974.1:n.*78T>C
ENST00000644701.1:c.*301T>C	ENSP00000496097.1:n.*301T>C
ENST00000644909.1:c.*583T>C	ENSP00000493649.1:n.*583T>C
ENST00000645152.1:n.1977T>C
ENST00000645227.1:c.*1002T>C	ENSP00000495021.1:n.*1002T>C
ENST00000646242.1:n.7226T>C
ENST00000646283.1:c.*78T>C	ENSP00000494537.1:n.*78T>C
ENST00000646401.1:n.2680T>C
ENST00000646856.1:c.*1190T>C	ENSP00000494505.1:n.*1190T>C
ENST00000647294.1:c.*1244T>C	ENSP00000494815.1:n.*1244T>C
ENST00000647508.1:c.*78T>C	ENSP00000496445.1:n.*78T>C
ENST00000647515.1:c.*845T>C	ENSP00000495857.1:n.*845T>C
ENST00000348513.10:c.*78T>C	ENSP00000323967.6:n.*78T>C
ENST00000431889.6:c.*78T>C	ENSP00000445370.1:n.*78T>C
ENST00000469334.5:n.1901T>C
ENST00000578112.5:c.*1111T>C	ENSP00000464501.1:n.*1111T>C
NM_003079.4:c.*78T>C	NP_003070.3:n.*78T>C
NM_003079.5:c.*78T>C MANE Select	NP_003070.3:n.*78T>C