Canonical Allele Identifier: CA399360831

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785068T>A (hg19) ; chr17:g.40628816T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628816T>A , CM000679.2:g.40628816T>A	GRCh38
NC_000017.10:g.38785068T>A , CM000679.1:g.38785068T>A	GRCh37
NC_000017.9:g.36038594T>A	NCBI36
NG_032163.1:g.24036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*767A>T	ENSP00000466608.2:n.*767A>T
ENST00000348513.12:c.1205A>T MANE Select	ENSP00000323967.6:p.Asp402Val
ENST00000377808.9:c.*192A>T	ENSP00000367039.4:n.*192A>T
ENST00000400122.8:c.*192A>T	ENSP00000411607.2:n.*192A>T
ENST00000469334.6:n.1803A>T
ENST00000578044.6:c.995A>T	ENSP00000464511.1:p.Asp332Val
ENST00000578112.6:c.*1002A>T	ENSP00000464501.1:n.*1002A>T
ENST00000580419.6:c.*184A>T	ENSP00000462475.2:n.*184A>T
ENST00000642576.1:n.2348A>T
ENST00000643030.1:n.1828A>T
ENST00000643255.1:c.*3269A>T	ENSP00000493957.1:n.*3269A>T
ENST00000643318.1:c.995A>T	ENSP00000494771.1:p.Asp332Val
ENST00000643378.1:n.1760A>T
ENST00000643683.1:c.1205A>T	ENSP00000496094.1:p.Asp402Val
ENST00000643893.1:n.1498A>T
ENST00000644443.1:n.3093A>T
ENST00000644523.1:n.1251A>T
ENST00000644527.1:c.977A>T	ENSP00000493974.1:p.Asp326Val
ENST00000644701.1:c.*192A>T	ENSP00000496097.1:n.*192A>T
ENST00000644909.1:c.*474A>T	ENSP00000493649.1:n.*474A>T
ENST00000645152.1:n.1868A>T
ENST00000645227.1:c.*893A>T	ENSP00000495021.1:n.*893A>T
ENST00000646242.1:n.7117A>T
ENST00000646283.1:c.1013A>T	ENSP00000494537.1:p.Asp338Val
ENST00000646401.1:n.2571A>T
ENST00000646448.1:n.2479A>T
ENST00000646856.1:c.*1081A>T	ENSP00000494505.1:n.*1081A>T
ENST00000647294.1:c.*1135A>T	ENSP00000494815.1:n.*1135A>T
ENST00000647508.1:c.1100A>T	ENSP00000496445.1:p.Asp367Val
ENST00000647515.1:c.*736A>T	ENSP00000495857.1:n.*736A>T
ENST00000348513.10:c.1205A>T	ENSP00000323967.6:p.Asp402Val
ENST00000377808.8:c.*192A>T	ENSP00000367039.4:n.*192A>T
ENST00000400122.7:c.*192A>T	ENSP00000411607.2:n.*192A>T
ENST00000431889.6:c.1151A>T	ENSP00000445370.1:p.Asp384Val
ENST00000469334.5:n.1792A>T
ENST00000476049.1:c.*1553A>T	ENSP00000463483.1:n.*1553A>T
ENST00000578044.5:c.995A>T	ENSP00000464511.1:p.Asp332Val
ENST00000578112.5:c.*1002A>T	ENSP00000464501.1:n.*1002A>T
ENST00000580419.5:c.1100A>T	ENSP00000462475.1:p.Asp367Val
NM_003079.4:c.1205A>T	NP_003070.3:p.Asp402Val
NM_003079.5:c.1205A>T MANE Select	NP_003070.3:p.Asp402Val