Canonical Allele Identifier: CA399360974

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 647309
• ClinVar RCV Id: RCV000801795 ; RCV001010163
• dbSNP Id: rs1597741198
• gnomAD v4: 17-40628841-C-T
• MyVariant Identifiers: chr17:g.38785093C>T (hg19) ; chr17:g.40628841C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628841C>T , CM000679.2:g.40628841C>T	GRCh38
NC_000017.10:g.38785093C>T , CM000679.1:g.38785093C>T	GRCh37
NC_000017.9:g.36038619C>T	NCBI36
NG_032163.1:g.24011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*742G>A	ENSP00000466608.2:n.*742G>A
ENST00000348513.12:c.1180G>A MANE Select	ENSP00000323967.6:p.Ala394Thr
ENST00000377808.9:c.*167G>A	ENSP00000367039.4:n.*167G>A
ENST00000400122.8:c.*167G>A	ENSP00000411607.2:n.*167G>A
ENST00000469334.6:n.1778G>A
ENST00000578044.6:c.970G>A	ENSP00000464511.1:p.Ala324Thr
ENST00000578112.6:c.*977G>A	ENSP00000464501.1:n.*977G>A
ENST00000580419.6:c.*159G>A	ENSP00000462475.2:n.*159G>A
ENST00000642576.1:n.2323G>A
ENST00000643030.1:n.1803G>A
ENST00000643255.1:c.*3244G>A	ENSP00000493957.1:n.*3244G>A
ENST00000643318.1:c.970G>A	ENSP00000494771.1:p.Ala324Thr
ENST00000643378.1:n.1735G>A
ENST00000643683.1:c.1180G>A	ENSP00000496094.1:p.Ala394Thr
ENST00000643893.1:n.1473G>A
ENST00000644443.1:n.3068G>A
ENST00000644523.1:n.1226G>A
ENST00000644527.1:c.952G>A	ENSP00000493974.1:p.Ala318Thr
ENST00000644701.1:c.*167G>A	ENSP00000496097.1:n.*167G>A
ENST00000644909.1:c.*449G>A	ENSP00000493649.1:n.*449G>A
ENST00000645152.1:n.1843G>A
ENST00000645227.1:c.*868G>A	ENSP00000495021.1:n.*868G>A
ENST00000646242.1:n.7092G>A
ENST00000646283.1:c.988G>A	ENSP00000494537.1:p.Ala330Thr
ENST00000646401.1:n.2546G>A
ENST00000646448.1:n.2454G>A
ENST00000646856.1:c.*1056G>A	ENSP00000494505.1:n.*1056G>A
ENST00000647294.1:c.*1110G>A	ENSP00000494815.1:n.*1110G>A
ENST00000647508.1:c.1075G>A	ENSP00000496445.1:p.Ala359Thr
ENST00000647515.1:c.*711G>A	ENSP00000495857.1:n.*711G>A
ENST00000348513.10:c.1180G>A	ENSP00000323967.6:p.Ala394Thr
ENST00000377808.8:c.*167G>A	ENSP00000367039.4:n.*167G>A
ENST00000400122.7:c.*167G>A	ENSP00000411607.2:n.*167G>A
ENST00000431889.6:c.1126G>A	ENSP00000445370.1:p.Ala376Thr
ENST00000469334.5:n.1767G>A
ENST00000476049.1:c.*1528G>A	ENSP00000463483.1:n.*1528G>A
ENST00000578044.5:c.970G>A	ENSP00000464511.1:p.Ala324Thr
ENST00000578112.5:c.*977G>A	ENSP00000464501.1:n.*977G>A
ENST00000580419.5:c.1075G>A	ENSP00000462475.1:p.Ala359Thr
NM_003079.4:c.1180G>A	NP_003070.3:p.Ala394Thr
NM_003079.5:c.1180G>A MANE Select	NP_003070.3:p.Ala394Thr