Canonical Allele Identifier: CA499962735

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1745044
• ClinVar RCV Id: RCV002351434
• dbSNP Id: rs2037060516
• gnomAD v4: 17-40628830-C-T
• MyVariant Identifiers: chr17:g.38785082C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628830C>T , CM000679.2:g.40628830C>T	GRCh38
NC_000017.10:g.38785082C>T , CM000679.1:g.38785082C>T	GRCh37
NC_000017.9:g.36038608C>T	NCBI36
NG_032163.1:g.24022G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*753G>A	ENSP00000466608.2:n.*753G>A
ENST00000348513.12:c.1191G>A MANE Select	ENSP00000323967.6:p.Glu397=
ENST00000377808.9:c.*178G>A	ENSP00000367039.4:n.*178G>A
ENST00000400122.8:c.*178G>A	ENSP00000411607.2:n.*178G>A
ENST00000469334.6:n.1789G>A
ENST00000578044.6:c.981G>A	ENSP00000464511.1:p.Glu327=
ENST00000578112.6:c.*988G>A	ENSP00000464501.1:n.*988G>A
ENST00000580419.6:c.*170G>A	ENSP00000462475.2:n.*170G>A
ENST00000642576.1:n.2334G>A
ENST00000643030.1:n.1814G>A
ENST00000643255.1:c.*3255G>A	ENSP00000493957.1:n.*3255G>A
ENST00000643318.1:c.981G>A	ENSP00000494771.1:p.Glu327=
ENST00000643378.1:n.1746G>A
ENST00000643683.1:c.1191G>A	ENSP00000496094.1:p.Glu397=
ENST00000643893.1:n.1484G>A
ENST00000644443.1:n.3079G>A
ENST00000644523.1:n.1237G>A
ENST00000644527.1:c.963G>A	ENSP00000493974.1:p.Glu321=
ENST00000644701.1:c.*178G>A	ENSP00000496097.1:n.*178G>A
ENST00000644909.1:c.*460G>A	ENSP00000493649.1:n.*460G>A
ENST00000645152.1:n.1854G>A
ENST00000645227.1:c.*879G>A	ENSP00000495021.1:n.*879G>A
ENST00000646242.1:n.7103G>A
ENST00000646283.1:c.999G>A	ENSP00000494537.1:p.Glu333=
ENST00000646401.1:n.2557G>A
ENST00000646448.1:n.2465G>A
ENST00000646856.1:c.*1067G>A	ENSP00000494505.1:n.*1067G>A
ENST00000647294.1:c.*1121G>A	ENSP00000494815.1:n.*1121G>A
ENST00000647508.1:c.1086G>A	ENSP00000496445.1:p.Glu362=
ENST00000647515.1:c.*722G>A	ENSP00000495857.1:n.*722G>A
ENST00000348513.10:c.1191G>A	ENSP00000323967.6:p.Glu397=
ENST00000377808.8:c.*178G>A	ENSP00000367039.4:n.*178G>A
ENST00000400122.7:c.*178G>A	ENSP00000411607.2:n.*178G>A
ENST00000431889.6:c.1137G>A	ENSP00000445370.1:p.Glu379=
ENST00000469334.5:n.1778G>A
ENST00000476049.1:c.*1539G>A	ENSP00000463483.1:n.*1539G>A
ENST00000578044.5:c.981G>A	ENSP00000464511.1:p.Glu327=
ENST00000578112.5:c.*988G>A	ENSP00000464501.1:n.*988G>A
ENST00000580419.5:c.1086G>A	ENSP00000462475.1:p.Glu362=
NM_003079.4:c.1191G>A	NP_003070.3:p.Glu397=
NM_003079.5:c.1191G>A MANE Select	NP_003070.3:p.Glu397=