Canonical Allele Identifier: CA399360699

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785044T>C (hg19) ; chr17:g.40628792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628792T>C , CM000679.2:g.40628792T>C	GRCh38
NC_000017.10:g.38785044T>C , CM000679.1:g.38785044T>C	GRCh37
NC_000017.9:g.36038570T>C	NCBI36
NG_032163.1:g.24060A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*791A>G	ENSP00000466608.2:n.*791A>G
ENST00000348513.12:c.1229A>G MANE Select	ENSP00000323967.6:p.Lys410Arg
ENST00000377808.9:c.*216A>G	ENSP00000367039.4:n.*216A>G
ENST00000400122.8:c.*216A>G	ENSP00000411607.2:n.*216A>G
ENST00000469334.6:n.1827A>G
ENST00000578044.6:c.1019A>G	ENSP00000464511.1:p.Lys340Arg
ENST00000578112.6:c.*1026A>G	ENSP00000464501.1:n.*1026A>G
ENST00000580419.6:c.*208A>G	ENSP00000462475.2:n.*208A>G
ENST00000642576.1:n.2372A>G
ENST00000643030.1:n.1852A>G
ENST00000643255.1:c.*3293A>G	ENSP00000493957.1:n.*3293A>G
ENST00000643318.1:c.1019A>G	ENSP00000494771.1:p.Lys340Arg
ENST00000643378.1:n.1784A>G
ENST00000643683.1:c.1229A>G	ENSP00000496094.1:p.Lys410Arg
ENST00000643893.1:n.1522A>G
ENST00000644443.1:n.3117A>G
ENST00000644523.1:n.1275A>G
ENST00000644527.1:c.1001A>G	ENSP00000493974.1:p.Lys334Arg
ENST00000644701.1:c.*216A>G	ENSP00000496097.1:n.*216A>G
ENST00000644909.1:c.*498A>G	ENSP00000493649.1:n.*498A>G
ENST00000645152.1:n.1892A>G
ENST00000645227.1:c.*917A>G	ENSP00000495021.1:n.*917A>G
ENST00000646242.1:n.7141A>G
ENST00000646283.1:c.1037A>G	ENSP00000494537.1:p.Lys346Arg
ENST00000646401.1:n.2595A>G
ENST00000646448.1:n.2503A>G
ENST00000646856.1:c.*1105A>G	ENSP00000494505.1:n.*1105A>G
ENST00000647294.1:c.*1159A>G	ENSP00000494815.1:n.*1159A>G
ENST00000647508.1:c.1124A>G	ENSP00000496445.1:p.Lys375Arg
ENST00000647515.1:c.*760A>G	ENSP00000495857.1:n.*760A>G
ENST00000348513.10:c.1229A>G	ENSP00000323967.6:p.Lys410Arg
ENST00000377808.8:c.*216A>G	ENSP00000367039.4:n.*216A>G
ENST00000400122.7:c.*216A>G	ENSP00000411607.2:n.*216A>G
ENST00000431889.6:c.1175A>G	ENSP00000445370.1:p.Lys392Arg
ENST00000469334.5:n.1816A>G
ENST00000578044.5:c.1019A>G	ENSP00000464511.1:p.Lys340Arg
ENST00000578112.5:c.*1026A>G	ENSP00000464501.1:n.*1026A>G
ENST00000580419.5:c.1124A>G	ENSP00000462475.1:p.Lys375Arg
NM_003079.4:c.1229A>G	NP_003070.3:p.Lys410Arg
NM_003079.5:c.1229A>G MANE Select	NP_003070.3:p.Lys410Arg