Canonical Allele Identifier: CA2259640505

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628800A= , CM000679.2:g.40628800A=	GRCh38
NC_000017.10:g.38785052A= , CM000679.1:g.38785052A=	GRCh37
NC_000017.9:g.36038578A=	NCBI36
NG_032163.1:g.24052T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*783T=	ENSP00000466608.2:n.*783T=
ENST00000348513.12:c.1221T= MANE Select	ENSP00000323967.6:p.Asp407=
ENST00000377808.9:c.*208T=	ENSP00000367039.4:n.*208T=
ENST00000400122.8:c.*208T=	ENSP00000411607.2:n.*208T=
ENST00000469334.6:n.1819T=
ENST00000578044.6:c.1011T=	ENSP00000464511.1:p.Asp337=
ENST00000578112.6:c.*1018T=	ENSP00000464501.1:n.*1018T=
ENST00000580419.6:c.*200T=	ENSP00000462475.2:n.*200T=
ENST00000642576.1:n.2364T=
ENST00000643030.1:n.1844T=
ENST00000643255.1:c.*3285T=	ENSP00000493957.1:n.*3285T=
ENST00000643318.1:c.1011T=	ENSP00000494771.1:p.Asp337=
ENST00000643378.1:n.1776T=
ENST00000643683.1:c.1221T=	ENSP00000496094.1:p.Asp407=
ENST00000643893.1:n.1514T=
ENST00000644443.1:n.3109T=
ENST00000644523.1:n.1267T=
ENST00000644527.1:c.993T=	ENSP00000493974.1:p.Asp331=
ENST00000644701.1:c.*208T=	ENSP00000496097.1:n.*208T=
ENST00000644909.1:c.*490T=	ENSP00000493649.1:n.*490T=
ENST00000645152.1:n.1884T=
ENST00000645227.1:c.*909T=	ENSP00000495021.1:n.*909T=
ENST00000646242.1:n.7133T=
ENST00000646283.1:c.1029T=	ENSP00000494537.1:p.Asp343=
ENST00000646401.1:n.2587T=
ENST00000646448.1:n.2495T=
ENST00000646856.1:c.*1097T=	ENSP00000494505.1:n.*1097T=
ENST00000647294.1:c.*1151T=	ENSP00000494815.1:n.*1151T=
ENST00000647508.1:c.1116T=	ENSP00000496445.1:p.Asp372=
ENST00000647515.1:c.*752T=	ENSP00000495857.1:n.*752T=
ENST00000348513.10:c.1221T=	ENSP00000323967.6:p.Asp407=
ENST00000377808.8:c.*208T=	ENSP00000367039.4:n.*208T=
ENST00000400122.7:c.*208T=	ENSP00000411607.2:n.*208T=
ENST00000431889.6:c.1167T=	ENSP00000445370.1:p.Asp389=
ENST00000469334.5:n.1808T=
ENST00000476049.1:c.*1569T=	ENSP00000463483.1:n.*1569T=
ENST00000578044.5:c.1011T=	ENSP00000464511.1:p.Asp337=
ENST00000578112.5:c.*1018T=	ENSP00000464501.1:n.*1018T=
ENST00000580419.5:c.1116T=	ENSP00000462475.1:p.Asp372=
NM_003079.4:c.1221T=	NP_003070.3:p.Asp407=
NM_003079.5:c.1221T= MANE Select	NP_003070.3:p.Asp407=