Canonical Allele Identifier: CA499962590

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 532237
• ClinVar RCV Id: RCV000638914
• dbSNP Id: rs1555605056
• gnomAD v4: 17-40628788-T-C
• MyVariant Identifiers: chr17:g.38785040T>C (hg19) ; chr17:g.40628788T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628788T>C , CM000679.2:g.40628788T>C	GRCh38
NC_000017.10:g.38785040T>C , CM000679.1:g.38785040T>C	GRCh37
NC_000017.9:g.36038566T>C	NCBI36
NG_032163.1:g.24064A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*795A>G	ENSP00000466608.2:n.*795A>G
ENST00000348513.12:c.1233A>G MANE Select	ENSP00000323967.6:p.Glu411=
ENST00000377808.9:c.*220A>G	ENSP00000367039.4:n.*220A>G
ENST00000400122.8:c.*220A>G	ENSP00000411607.2:n.*220A>G
ENST00000469334.6:n.1831A>G
ENST00000578044.6:c.1023A>G	ENSP00000464511.1:p.Glu341=
ENST00000578112.6:c.*1030A>G	ENSP00000464501.1:n.*1030A>G
ENST00000580419.6:c.*212A>G	ENSP00000462475.2:n.*212A>G
ENST00000642576.1:n.2376A>G
ENST00000643030.1:n.1856A>G
ENST00000643255.1:c.*3297A>G	ENSP00000493957.1:n.*3297A>G
ENST00000643318.1:c.1023A>G	ENSP00000494771.1:p.Glu341=
ENST00000643378.1:n.1788A>G
ENST00000643683.1:c.1233A>G	ENSP00000496094.1:p.Glu411=
ENST00000643893.1:n.1526A>G
ENST00000644443.1:n.3121A>G
ENST00000644523.1:n.1279A>G
ENST00000644527.1:c.1005A>G	ENSP00000493974.1:p.Glu335=
ENST00000644701.1:c.*220A>G	ENSP00000496097.1:n.*220A>G
ENST00000644909.1:c.*502A>G	ENSP00000493649.1:n.*502A>G
ENST00000645152.1:n.1896A>G
ENST00000645227.1:c.*921A>G	ENSP00000495021.1:n.*921A>G
ENST00000646242.1:n.7145A>G
ENST00000646283.1:c.1041A>G	ENSP00000494537.1:p.Glu347=
ENST00000646401.1:n.2599A>G
ENST00000646448.1:n.2507A>G
ENST00000646856.1:c.*1109A>G	ENSP00000494505.1:n.*1109A>G
ENST00000647294.1:c.*1163A>G	ENSP00000494815.1:n.*1163A>G
ENST00000647508.1:c.1128A>G	ENSP00000496445.1:p.Glu376=
ENST00000647515.1:c.*764A>G	ENSP00000495857.1:n.*764A>G
ENST00000348513.10:c.1233A>G	ENSP00000323967.6:p.Glu411=
ENST00000377808.8:c.*220A>G	ENSP00000367039.4:n.*220A>G
ENST00000400122.7:c.*220A>G	ENSP00000411607.2:n.*220A>G
ENST00000431889.6:c.1179A>G	ENSP00000445370.1:p.Glu393=
ENST00000469334.5:n.1820A>G
ENST00000578044.5:c.1023A>G	ENSP00000464511.1:p.Glu341=
ENST00000578112.5:c.*1030A>G	ENSP00000464501.1:n.*1030A>G
ENST00000580419.5:c.1128A>G	ENSP00000462475.1:p.Glu376=
NM_003079.4:c.1233A>G	NP_003070.3:p.Glu411=
NM_003079.5:c.1233A>G MANE Select	NP_003070.3:p.Glu411=