Canonical Allele Identifier: CA399360781

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785057C>A (hg19) ; chr17:g.40628805C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628805C>A , CM000679.2:g.40628805C>A	GRCh38
NC_000017.10:g.38785057C>A , CM000679.1:g.38785057C>A	GRCh37
NC_000017.9:g.36038583C>A	NCBI36
NG_032163.1:g.24047G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*778G>T	ENSP00000466608.2:n.*778G>T
ENST00000348513.12:c.1216G>T MANE Select	ENSP00000323967.6:p.Glu406Ter
ENST00000377808.9:c.*203G>T	ENSP00000367039.4:n.*203G>T
ENST00000400122.8:c.*203G>T	ENSP00000411607.2:n.*203G>T
ENST00000469334.6:n.1814G>T
ENST00000578044.6:c.1006G>T	ENSP00000464511.1:p.Glu336Ter
ENST00000578112.6:c.*1013G>T	ENSP00000464501.1:n.*1013G>T
ENST00000580419.6:c.*195G>T	ENSP00000462475.2:n.*195G>T
ENST00000642576.1:n.2359G>T
ENST00000643030.1:n.1839G>T
ENST00000643255.1:c.*3280G>T	ENSP00000493957.1:n.*3280G>T
ENST00000643318.1:c.1006G>T	ENSP00000494771.1:p.Glu336Ter
ENST00000643378.1:n.1771G>T
ENST00000643683.1:c.1216G>T	ENSP00000496094.1:p.Glu406Ter
ENST00000643893.1:n.1509G>T
ENST00000644443.1:n.3104G>T
ENST00000644523.1:n.1262G>T
ENST00000644527.1:c.988G>T	ENSP00000493974.1:p.Glu330Ter
ENST00000644701.1:c.*203G>T	ENSP00000496097.1:n.*203G>T
ENST00000644909.1:c.*485G>T	ENSP00000493649.1:n.*485G>T
ENST00000645152.1:n.1879G>T
ENST00000645227.1:c.*904G>T	ENSP00000495021.1:n.*904G>T
ENST00000646242.1:n.7128G>T
ENST00000646283.1:c.1024G>T	ENSP00000494537.1:p.Glu342Ter
ENST00000646401.1:n.2582G>T
ENST00000646448.1:n.2490G>T
ENST00000646856.1:c.*1092G>T	ENSP00000494505.1:n.*1092G>T
ENST00000647294.1:c.*1146G>T	ENSP00000494815.1:n.*1146G>T
ENST00000647508.1:c.1111G>T	ENSP00000496445.1:p.Glu371Ter
ENST00000647515.1:c.*747G>T	ENSP00000495857.1:n.*747G>T
ENST00000348513.10:c.1216G>T	ENSP00000323967.6:p.Glu406Ter
ENST00000377808.8:c.*203G>T	ENSP00000367039.4:n.*203G>T
ENST00000400122.7:c.*203G>T	ENSP00000411607.2:n.*203G>T
ENST00000431889.6:c.1162G>T	ENSP00000445370.1:p.Glu388Ter
ENST00000469334.5:n.1803G>T
ENST00000476049.1:c.*1564G>T	ENSP00000463483.1:n.*1564G>T
ENST00000578044.5:c.1006G>T	ENSP00000464511.1:p.Glu336Ter
ENST00000578112.5:c.*1013G>T	ENSP00000464501.1:n.*1013G>T
ENST00000580419.5:c.1111G>T	ENSP00000462475.1:p.Glu371Ter
NM_003079.4:c.1216G>T	NP_003070.3:p.Glu406Ter
NM_003079.5:c.1216G>T MANE Select	NP_003070.3:p.Glu406Ter