Canonical Allele Identifier: CA399361081

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785113G>C (hg19) ; chr17:g.40628861G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628861G>C , CM000679.2:g.40628861G>C	GRCh38
NC_000017.10:g.38785113G>C , CM000679.1:g.38785113G>C	GRCh37
NC_000017.9:g.36038639G>C	NCBI36
NG_032163.1:g.23991C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*722C>G	ENSP00000466608.2:n.*722C>G
ENST00000348513.12:c.1160C>G MANE Select	ENSP00000323967.6:p.Thr387Ser
ENST00000377808.9:c.*147C>G	ENSP00000367039.4:n.*147C>G
ENST00000400122.8:c.*147C>G	ENSP00000411607.2:n.*147C>G
ENST00000469334.6:n.1758C>G
ENST00000578044.6:c.950C>G	ENSP00000464511.1:p.Thr317Ser
ENST00000578112.6:c.*957C>G	ENSP00000464501.1:n.*957C>G
ENST00000580419.6:c.*139C>G	ENSP00000462475.2:n.*139C>G
ENST00000642576.1:n.2303C>G
ENST00000643030.1:n.1783C>G
ENST00000643255.1:c.*3224C>G	ENSP00000493957.1:n.*3224C>G
ENST00000643318.1:c.950C>G	ENSP00000494771.1:p.Thr317Ser
ENST00000643378.1:n.1715C>G
ENST00000643683.1:c.1160C>G	ENSP00000496094.1:p.Thr387Ser
ENST00000643893.1:n.1453C>G
ENST00000644443.1:n.3048C>G
ENST00000644523.1:n.1206C>G
ENST00000644527.1:c.932C>G	ENSP00000493974.1:p.Thr311Ser
ENST00000644701.1:c.*147C>G	ENSP00000496097.1:n.*147C>G
ENST00000644909.1:c.*429C>G	ENSP00000493649.1:n.*429C>G
ENST00000645152.1:n.1823C>G
ENST00000645227.1:c.*848C>G	ENSP00000495021.1:n.*848C>G
ENST00000646242.1:n.7072C>G
ENST00000646283.1:c.968C>G	ENSP00000494537.1:p.Thr323Ser
ENST00000646401.1:n.2526C>G
ENST00000646448.1:n.2434C>G
ENST00000646856.1:c.*1036C>G	ENSP00000494505.1:n.*1036C>G
ENST00000647294.1:c.*1090C>G	ENSP00000494815.1:n.*1090C>G
ENST00000647508.1:c.1055C>G	ENSP00000496445.1:p.Thr352Ser
ENST00000647515.1:c.*691C>G	ENSP00000495857.1:n.*691C>G
ENST00000348513.10:c.1160C>G	ENSP00000323967.6:p.Thr387Ser
ENST00000377808.8:c.*147C>G	ENSP00000367039.4:n.*147C>G
ENST00000400122.7:c.*147C>G	ENSP00000411607.2:n.*147C>G
ENST00000431889.6:c.1106C>G	ENSP00000445370.1:p.Thr369Ser
ENST00000469334.5:n.1747C>G
ENST00000476049.1:c.*1508C>G	ENSP00000463483.1:n.*1508C>G
ENST00000578044.5:c.950C>G	ENSP00000464511.1:p.Thr317Ser
ENST00000578112.5:c.*957C>G	ENSP00000464501.1:n.*957C>G
ENST00000580419.5:c.1055C>G	ENSP00000462475.1:p.Thr352Ser
NM_003079.4:c.1160C>G	NP_003070.3:p.Thr387Ser
NM_003079.5:c.1160C>G MANE Select	NP_003070.3:p.Thr387Ser