Canonical Allele Identifier: CA399361492

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1351659
• ClinVar RCV Id: RCV002044895
• dbSNP Id: rs1247688181
• MyVariant Identifiers: chr17:g.38785185G>C (hg19) ; chr17:g.40628933G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628933G>C , CM000679.2:g.40628933G>C	GRCh38
NC_000017.10:g.38785185G>C , CM000679.1:g.38785185G>C	GRCh37
NC_000017.9:g.36038711G>C	NCBI36
NG_032163.1:g.23919C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*650C>G	ENSP00000466608.2:n.*650C>G
ENST00000348513.12:c.1088C>G MANE Select	ENSP00000323967.6:p.Thr363Ser
ENST00000377808.9:c.*75C>G	ENSP00000367039.4:n.*75C>G
ENST00000400122.8:c.*75C>G	ENSP00000411607.2:n.*75C>G
ENST00000469334.6:n.1686C>G
ENST00000578044.6:c.878C>G	ENSP00000464511.1:p.Thr293Ser
ENST00000578112.6:c.*885C>G	ENSP00000464501.1:n.*885C>G
ENST00000580419.6:c.*67C>G	ENSP00000462475.2:n.*67C>G
ENST00000642576.1:n.2231C>G
ENST00000643030.1:n.1711C>G
ENST00000643255.1:c.*3152C>G	ENSP00000493957.1:n.*3152C>G
ENST00000643318.1:c.878C>G	ENSP00000494771.1:p.Thr293Ser
ENST00000643378.1:n.1643C>G
ENST00000643683.1:c.1088C>G	ENSP00000496094.1:p.Thr363Ser
ENST00000643893.1:n.1381C>G
ENST00000644443.1:n.2976C>G
ENST00000644523.1:n.1134C>G
ENST00000644527.1:c.860C>G	ENSP00000493974.1:p.Thr287Ser
ENST00000644701.1:c.*75C>G	ENSP00000496097.1:n.*75C>G
ENST00000644909.1:c.*357C>G	ENSP00000493649.1:n.*357C>G
ENST00000645152.1:n.1751C>G
ENST00000645227.1:c.*776C>G	ENSP00000495021.1:n.*776C>G
ENST00000646242.1:n.7000C>G
ENST00000646283.1:c.896C>G	ENSP00000494537.1:p.Thr299Ser
ENST00000646401.1:n.2454C>G
ENST00000646448.1:n.2362C>G
ENST00000646856.1:c.*964C>G	ENSP00000494505.1:n.*964C>G
ENST00000647294.1:c.*1018C>G	ENSP00000494815.1:n.*1018C>G
ENST00000647508.1:c.983C>G	ENSP00000496445.1:p.Thr328Ser
ENST00000647515.1:c.*619C>G	ENSP00000495857.1:n.*619C>G
ENST00000348513.10:c.1088C>G	ENSP00000323967.6:p.Thr363Ser
ENST00000377808.8:c.*75C>G	ENSP00000367039.4:n.*75C>G
ENST00000400122.7:c.*75C>G	ENSP00000411607.2:n.*75C>G
ENST00000431889.6:c.1034C>G	ENSP00000445370.1:p.Thr345Ser
ENST00000469334.5:n.1675C>G
ENST00000476049.1:c.*1436C>G	ENSP00000463483.1:n.*1436C>G
ENST00000578044.5:c.878C>G	ENSP00000464511.1:p.Thr293Ser
ENST00000578112.5:c.*885C>G	ENSP00000464501.1:n.*885C>G
ENST00000580419.5:c.983C>G	ENSP00000462475.1:p.Thr328Ser
NM_003079.4:c.1088C>G	NP_003070.3:p.Thr363Ser
NM_003079.5:c.1088C>G MANE Select	NP_003070.3:p.Thr363Ser