Canonical Allele Identifier: CA499962620

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1263004314
• gnomAD v2: 17-38785049-C-T
• gnomAD v4: 17-40628797-C-T
• MyVariant Identifiers: chr17:g.38785049C>T (hg19) ; chr17:g.40628797C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628797C>T , CM000679.2:g.40628797C>T	GRCh38
NC_000017.10:g.38785049C>T , CM000679.1:g.38785049C>T	GRCh37
NC_000017.9:g.36038575C>T	NCBI36
NG_032163.1:g.24055G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*786G>A	ENSP00000466608.2:n.*786G>A
ENST00000348513.12:c.1224G>A MANE Select	ENSP00000323967.6:p.Glu408=
ENST00000377808.9:c.*211G>A	ENSP00000367039.4:n.*211G>A
ENST00000400122.8:c.*211G>A	ENSP00000411607.2:n.*211G>A
ENST00000469334.6:n.1822G>A
ENST00000578044.6:c.1014G>A	ENSP00000464511.1:p.Glu338=
ENST00000578112.6:c.*1021G>A	ENSP00000464501.1:n.*1021G>A
ENST00000580419.6:c.*203G>A	ENSP00000462475.2:n.*203G>A
ENST00000642576.1:n.2367G>A
ENST00000643030.1:n.1847G>A
ENST00000643255.1:c.*3288G>A	ENSP00000493957.1:n.*3288G>A
ENST00000643318.1:c.1014G>A	ENSP00000494771.1:p.Glu338=
ENST00000643378.1:n.1779G>A
ENST00000643683.1:c.1224G>A	ENSP00000496094.1:p.Glu408=
ENST00000643893.1:n.1517G>A
ENST00000644443.1:n.3112G>A
ENST00000644523.1:n.1270G>A
ENST00000644527.1:c.996G>A	ENSP00000493974.1:p.Glu332=
ENST00000644701.1:c.*211G>A	ENSP00000496097.1:n.*211G>A
ENST00000644909.1:c.*493G>A	ENSP00000493649.1:n.*493G>A
ENST00000645152.1:n.1887G>A
ENST00000645227.1:c.*912G>A	ENSP00000495021.1:n.*912G>A
ENST00000646242.1:n.7136G>A
ENST00000646283.1:c.1032G>A	ENSP00000494537.1:p.Glu344=
ENST00000646401.1:n.2590G>A
ENST00000646448.1:n.2498G>A
ENST00000646856.1:c.*1100G>A	ENSP00000494505.1:n.*1100G>A
ENST00000647294.1:c.*1154G>A	ENSP00000494815.1:n.*1154G>A
ENST00000647508.1:c.1119G>A	ENSP00000496445.1:p.Glu373=
ENST00000647515.1:c.*755G>A	ENSP00000495857.1:n.*755G>A
ENST00000348513.10:c.1224G>A	ENSP00000323967.6:p.Glu408=
ENST00000377808.8:c.*211G>A	ENSP00000367039.4:n.*211G>A
ENST00000400122.7:c.*211G>A	ENSP00000411607.2:n.*211G>A
ENST00000431889.6:c.1170G>A	ENSP00000445370.1:p.Glu390=
ENST00000469334.5:n.1811G>A
ENST00000476049.1:c.*1572G>A	ENSP00000463483.1:n.*1572G>A
ENST00000578044.5:c.1014G>A	ENSP00000464511.1:p.Glu338=
ENST00000578112.5:c.*1021G>A	ENSP00000464501.1:n.*1021G>A
ENST00000580419.5:c.1119G>A	ENSP00000462475.1:p.Glu373=
NM_003079.4:c.1224G>A	NP_003070.3:p.Glu408=
NM_003079.5:c.1224G>A MANE Select	NP_003070.3:p.Glu408=