Canonical Allele Identifier: CA399360913

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785082C>A (hg19) ; chr17:g.40628830C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*753G>T	ENSP00000466608.2:n.*753G>T
ENST00000348513.12:c.1191G>T MANE Select	ENSP00000323967.6:p.Glu397Asp
ENST00000377808.9:c.*178G>T	ENSP00000367039.4:n.*178G>T
ENST00000400122.8:c.*178G>T	ENSP00000411607.2:n.*178G>T
ENST00000469334.6:n.1789G>T
ENST00000578044.6:c.981G>T	ENSP00000464511.1:p.Glu327Asp
ENST00000578112.6:c.*988G>T	ENSP00000464501.1:n.*988G>T
ENST00000580419.6:c.*170G>T	ENSP00000462475.2:n.*170G>T
ENST00000642576.1:n.2334G>T
ENST00000643030.1:n.1814G>T
ENST00000643255.1:c.*3255G>T	ENSP00000493957.1:n.*3255G>T
ENST00000643318.1:c.981G>T	ENSP00000494771.1:p.Glu327Asp
ENST00000643378.1:n.1746G>T
ENST00000643683.1:c.1191G>T	ENSP00000496094.1:p.Glu397Asp
ENST00000643893.1:n.1484G>T
ENST00000644443.1:n.3079G>T
ENST00000644523.1:n.1237G>T
ENST00000644527.1:c.963G>T	ENSP00000493974.1:p.Glu321Asp
ENST00000644701.1:c.*178G>T	ENSP00000496097.1:n.*178G>T
ENST00000644909.1:c.*460G>T	ENSP00000493649.1:n.*460G>T
ENST00000645152.1:n.1854G>T
ENST00000645227.1:c.*879G>T	ENSP00000495021.1:n.*879G>T
ENST00000646242.1:n.7103G>T
ENST00000646283.1:c.999G>T	ENSP00000494537.1:p.Glu333Asp
ENST00000646401.1:n.2557G>T
ENST00000646448.1:n.2465G>T
ENST00000646856.1:c.*1067G>T	ENSP00000494505.1:n.*1067G>T
ENST00000647294.1:c.*1121G>T	ENSP00000494815.1:n.*1121G>T
ENST00000647508.1:c.1086G>T	ENSP00000496445.1:p.Glu362Asp
ENST00000647515.1:c.*722G>T	ENSP00000495857.1:n.*722G>T
ENST00000348513.10:c.1191G>T	ENSP00000323967.6:p.Glu397Asp
ENST00000377808.8:c.*178G>T	ENSP00000367039.4:n.*178G>T
ENST00000400122.7:c.*178G>T	ENSP00000411607.2:n.*178G>T
ENST00000431889.6:c.1137G>T	ENSP00000445370.1:p.Glu379Asp
ENST00000469334.5:n.1778G>T
ENST00000476049.1:c.*1539G>T	ENSP00000463483.1:n.*1539G>T
ENST00000578044.5:c.981G>T	ENSP00000464511.1:p.Glu327Asp
ENST00000578112.5:c.*988G>T	ENSP00000464501.1:n.*988G>T
ENST00000580419.5:c.1086G>T	ENSP00000462475.1:p.Glu362Asp
NM_003079.4:c.1191G>T	NP_003070.3:p.Glu397Asp
NM_003079.5:c.1191G>T MANE Select	NP_003070.3:p.Glu397Asp