Canonical Allele Identifier: CA399360969

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785093C>A (hg19) ; chr17:g.40628841C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*742G>T	ENSP00000466608.2:n.*742G>T
ENST00000348513.12:c.1180G>T MANE Select	ENSP00000323967.6:p.Ala394Ser
ENST00000377808.9:c.*167G>T	ENSP00000367039.4:n.*167G>T
ENST00000400122.8:c.*167G>T	ENSP00000411607.2:n.*167G>T
ENST00000469334.6:n.1778G>T
ENST00000578044.6:c.970G>T	ENSP00000464511.1:p.Ala324Ser
ENST00000578112.6:c.*977G>T	ENSP00000464501.1:n.*977G>T
ENST00000580419.6:c.*159G>T	ENSP00000462475.2:n.*159G>T
ENST00000642576.1:n.2323G>T
ENST00000643030.1:n.1803G>T
ENST00000643255.1:c.*3244G>T	ENSP00000493957.1:n.*3244G>T
ENST00000643318.1:c.970G>T	ENSP00000494771.1:p.Ala324Ser
ENST00000643378.1:n.1735G>T
ENST00000643683.1:c.1180G>T	ENSP00000496094.1:p.Ala394Ser
ENST00000643893.1:n.1473G>T
ENST00000644443.1:n.3068G>T
ENST00000644523.1:n.1226G>T
ENST00000644527.1:c.952G>T	ENSP00000493974.1:p.Ala318Ser
ENST00000644701.1:c.*167G>T	ENSP00000496097.1:n.*167G>T
ENST00000644909.1:c.*449G>T	ENSP00000493649.1:n.*449G>T
ENST00000645152.1:n.1843G>T
ENST00000645227.1:c.*868G>T	ENSP00000495021.1:n.*868G>T
ENST00000646242.1:n.7092G>T
ENST00000646283.1:c.988G>T	ENSP00000494537.1:p.Ala330Ser
ENST00000646401.1:n.2546G>T
ENST00000646448.1:n.2454G>T
ENST00000646856.1:c.*1056G>T	ENSP00000494505.1:n.*1056G>T
ENST00000647294.1:c.*1110G>T	ENSP00000494815.1:n.*1110G>T
ENST00000647508.1:c.1075G>T	ENSP00000496445.1:p.Ala359Ser
ENST00000647515.1:c.*711G>T	ENSP00000495857.1:n.*711G>T
ENST00000348513.10:c.1180G>T	ENSP00000323967.6:p.Ala394Ser
ENST00000377808.8:c.*167G>T	ENSP00000367039.4:n.*167G>T
ENST00000400122.7:c.*167G>T	ENSP00000411607.2:n.*167G>T
ENST00000431889.6:c.1126G>T	ENSP00000445370.1:p.Ala376Ser
ENST00000469334.5:n.1767G>T
ENST00000476049.1:c.*1528G>T	ENSP00000463483.1:n.*1528G>T
ENST00000578044.5:c.970G>T	ENSP00000464511.1:p.Ala324Ser
ENST00000578112.5:c.*977G>T	ENSP00000464501.1:n.*977G>T
ENST00000580419.5:c.1075G>T	ENSP00000462475.1:p.Ala359Ser
NM_003079.4:c.1180G>T	NP_003070.3:p.Ala394Ser
NM_003079.5:c.1180G>T MANE Select	NP_003070.3:p.Ala394Ser