Canonical Allele Identifier: CA399360684

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628789-T-C
• MyVariant Identifiers: chr17:g.38785041T>C (hg19) ; chr17:g.40628789T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628789T>C , CM000679.2:g.40628789T>C	GRCh38
NC_000017.10:g.38785041T>C , CM000679.1:g.38785041T>C	GRCh37
NC_000017.9:g.36038567T>C	NCBI36
NG_032163.1:g.24063A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*794A>G	ENSP00000466608.2:n.*794A>G
ENST00000348513.12:c.1232A>G MANE Select	ENSP00000323967.6:p.Glu411Gly
ENST00000377808.9:c.*219A>G	ENSP00000367039.4:n.*219A>G
ENST00000400122.8:c.*219A>G	ENSP00000411607.2:n.*219A>G
ENST00000469334.6:n.1830A>G
ENST00000578044.6:c.1022A>G	ENSP00000464511.1:p.Glu341Gly
ENST00000578112.6:c.*1029A>G	ENSP00000464501.1:n.*1029A>G
ENST00000580419.6:c.*211A>G	ENSP00000462475.2:n.*211A>G
ENST00000642576.1:n.2375A>G
ENST00000643030.1:n.1855A>G
ENST00000643255.1:c.*3296A>G	ENSP00000493957.1:n.*3296A>G
ENST00000643318.1:c.1022A>G	ENSP00000494771.1:p.Glu341Gly
ENST00000643378.1:n.1787A>G
ENST00000643683.1:c.1232A>G	ENSP00000496094.1:p.Glu411Gly
ENST00000643893.1:n.1525A>G
ENST00000644443.1:n.3120A>G
ENST00000644523.1:n.1278A>G
ENST00000644527.1:c.1004A>G	ENSP00000493974.1:p.Glu335Gly
ENST00000644701.1:c.*219A>G	ENSP00000496097.1:n.*219A>G
ENST00000644909.1:c.*501A>G	ENSP00000493649.1:n.*501A>G
ENST00000645152.1:n.1895A>G
ENST00000645227.1:c.*920A>G	ENSP00000495021.1:n.*920A>G
ENST00000646242.1:n.7144A>G
ENST00000646283.1:c.1040A>G	ENSP00000494537.1:p.Glu347Gly
ENST00000646401.1:n.2598A>G
ENST00000646448.1:n.2506A>G
ENST00000646856.1:c.*1108A>G	ENSP00000494505.1:n.*1108A>G
ENST00000647294.1:c.*1162A>G	ENSP00000494815.1:n.*1162A>G
ENST00000647508.1:c.1127A>G	ENSP00000496445.1:p.Glu376Gly
ENST00000647515.1:c.*763A>G	ENSP00000495857.1:n.*763A>G
ENST00000348513.10:c.1232A>G	ENSP00000323967.6:p.Glu411Gly
ENST00000377808.8:c.*219A>G	ENSP00000367039.4:n.*219A>G
ENST00000400122.7:c.*219A>G	ENSP00000411607.2:n.*219A>G
ENST00000431889.6:c.1178A>G	ENSP00000445370.1:p.Glu393Gly
ENST00000469334.5:n.1819A>G
ENST00000578044.5:c.1022A>G	ENSP00000464511.1:p.Glu341Gly
ENST00000578112.5:c.*1029A>G	ENSP00000464501.1:n.*1029A>G
ENST00000580419.5:c.1127A>G	ENSP00000462475.1:p.Glu376Gly
NM_003079.4:c.1232A>G	NP_003070.3:p.Glu411Gly
NM_003079.5:c.1232A>G MANE Select	NP_003070.3:p.Glu411Gly