Canonical Allele Identifier: CA2733217333

Gene: SMARCE1

Linked Data

• dbSNP Id: rs939689702

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628498G>A , CM000679.2:g.40628498G>A	GRCh38
NC_000017.10:g.38784750G>A , CM000679.1:g.38784750G>A	GRCh37
NC_000017.9:g.36038276G>A	NCBI36
NG_032163.1:g.24354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1085C>T	ENSP00000466608.2:n.*1085C>T
ENST00000348513.12:c.*287C>T MANE Select	ENSP00000323967.6:n.*287C>T
ENST00000377808.9:c.*510C>T	ENSP00000367039.4:n.*510C>T
ENST00000400122.8:c.*510C>T	ENSP00000411607.2:n.*510C>T
ENST00000469334.6:n.2121C>T
ENST00000578112.6:c.*1320C>T	ENSP00000464501.1:n.*1320C>T
ENST00000580419.6:c.*502C>T	ENSP00000462475.2:n.*502C>T
ENST00000642576.1:n.2666C>T
ENST00000643030.1:n.2146C>T
ENST00000643255.1:c.*3587C>T	ENSP00000493957.1:n.*3587C>T
ENST00000643318.1:c.*287C>T	ENSP00000494771.1:n.*287C>T
ENST00000643378.1:n.2078C>T
ENST00000643683.1:c.*287C>T	ENSP00000496094.1:n.*287C>T
ENST00000643893.1:n.1816C>T
ENST00000644443.1:n.3411C>T
ENST00000644523.1:n.1569C>T
ENST00000644527.1:c.*287C>T	ENSP00000493974.1:n.*287C>T
ENST00000644701.1:c.*510C>T	ENSP00000496097.1:n.*510C>T
ENST00000644909.1:c.*792C>T	ENSP00000493649.1:n.*792C>T
ENST00000645152.1:n.2186C>T
ENST00000645227.1:c.*1211C>T	ENSP00000495021.1:n.*1211C>T
ENST00000646242.1:n.7435C>T
ENST00000646283.1:c.*287C>T	ENSP00000494537.1:n.*287C>T
ENST00000646401.1:n.2889C>T
ENST00000646856.1:c.*1399C>T	ENSP00000494505.1:n.*1399C>T
ENST00000647294.1:c.*1453C>T	ENSP00000494815.1:n.*1453C>T
ENST00000647508.1:c.*287C>T	ENSP00000496445.1:n.*287C>T
ENST00000647515.1:c.*1054C>T	ENSP00000495857.1:n.*1054C>T
ENST00000348513.10:c.*287C>T	ENSP00000323967.6:n.*287C>T
ENST00000431889.6:c.*287C>T	ENSP00000445370.1:n.*287C>T
ENST00000469334.5:n.2110C>T
ENST00000578112.5:c.*1320C>T	ENSP00000464501.1:n.*1320C>T
NM_003079.4:c.*287C>T	NP_003070.3:n.*287C>T
NM_003079.5:c.*287C>T MANE Select	NP_003070.3:n.*287C>T