Canonical Allele Identifier: CA2637750235

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628784-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628784C>T , CM000679.2:g.40628784C>T	GRCh38
NC_000017.10:g.38785036C>T , CM000679.1:g.38785036C>T	GRCh37
NC_000017.9:g.36038562C>T	NCBI36
NG_032163.1:g.24068G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*799G>A	ENSP00000466608.2:n.*799G>A
ENST00000348513.12:c.*1G>A MANE Select	ENSP00000323967.6:n.*1G>A
ENST00000377808.9:c.*224G>A	ENSP00000367039.4:n.*224G>A
ENST00000400122.8:c.*224G>A	ENSP00000411607.2:n.*224G>A
ENST00000469334.6:n.1835G>A
ENST00000578112.6:c.*1034G>A	ENSP00000464501.1:n.*1034G>A
ENST00000580419.6:c.*216G>A	ENSP00000462475.2:n.*216G>A
ENST00000642576.1:n.2380G>A
ENST00000643030.1:n.1860G>A
ENST00000643255.1:c.*3301G>A	ENSP00000493957.1:n.*3301G>A
ENST00000643318.1:c.*1G>A	ENSP00000494771.1:n.*1G>A
ENST00000643378.1:n.1792G>A
ENST00000643683.1:c.*1G>A	ENSP00000496094.1:n.*1G>A
ENST00000643893.1:n.1530G>A
ENST00000644443.1:n.3125G>A
ENST00000644523.1:n.1283G>A
ENST00000644527.1:c.*1G>A	ENSP00000493974.1:n.*1G>A
ENST00000644701.1:c.*224G>A	ENSP00000496097.1:n.*224G>A
ENST00000644909.1:c.*506G>A	ENSP00000493649.1:n.*506G>A
ENST00000645152.1:n.1900G>A
ENST00000645227.1:c.*925G>A	ENSP00000495021.1:n.*925G>A
ENST00000646242.1:n.7149G>A
ENST00000646283.1:c.*1G>A	ENSP00000494537.1:n.*1G>A
ENST00000646401.1:n.2603G>A
ENST00000646448.1:n.2511G>A
ENST00000646856.1:c.*1113G>A	ENSP00000494505.1:n.*1113G>A
ENST00000647294.1:c.*1167G>A	ENSP00000494815.1:n.*1167G>A
ENST00000647508.1:c.*1G>A	ENSP00000496445.1:n.*1G>A
ENST00000647515.1:c.*768G>A	ENSP00000495857.1:n.*768G>A
ENST00000348513.10:c.*1G>A	ENSP00000323967.6:n.*1G>A
ENST00000377808.8:c.*224G>A	ENSP00000367039.4:n.*224G>A
ENST00000400122.7:c.*224G>A	ENSP00000411607.2:n.*224G>A
ENST00000431889.6:c.*1G>A	ENSP00000445370.1:n.*1G>A
ENST00000469334.5:n.1824G>A
ENST00000578044.5:c.*1G>A	ENSP00000464511.1:n.*1G>A
ENST00000578112.5:c.*1034G>A	ENSP00000464501.1:n.*1034G>A
ENST00000580419.5:c.*1G>A	ENSP00000462475.1:n.*1G>A
NM_003079.4:c.*1G>A	NP_003070.3:n.*1G>A
NM_003079.5:c.*1G>A MANE Select	NP_003070.3:n.*1G>A