Canonical Allele Identifier: CA2259640409

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628563G= , CM000679.2:g.40628563G=	GRCh38
NC_000017.10:g.38784815G= , CM000679.1:g.38784815G=	GRCh37
NC_000017.9:g.36038341G=	NCBI36
NG_032163.1:g.24289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1020C=	ENSP00000466608.2:n.*1020C=
ENST00000348513.12:c.*222C= MANE Select	ENSP00000323967.6:n.*222C=
ENST00000377808.9:c.*445C=	ENSP00000367039.4:n.*445C=
ENST00000400122.8:c.*445C=	ENSP00000411607.2:n.*445C=
ENST00000469334.6:n.2056C=
ENST00000578112.6:c.*1255C=	ENSP00000464501.1:n.*1255C=
ENST00000580419.6:c.*437C=	ENSP00000462475.2:n.*437C=
ENST00000642576.1:n.2601C=
ENST00000643030.1:n.2081C=
ENST00000643255.1:c.*3522C=	ENSP00000493957.1:n.*3522C=
ENST00000643318.1:c.*222C=	ENSP00000494771.1:n.*222C=
ENST00000643378.1:n.2013C=
ENST00000643683.1:c.*222C=	ENSP00000496094.1:n.*222C=
ENST00000643893.1:n.1751C=
ENST00000644443.1:n.3346C=
ENST00000644523.1:n.1504C=
ENST00000644527.1:c.*222C=	ENSP00000493974.1:n.*222C=
ENST00000644701.1:c.*445C=	ENSP00000496097.1:n.*445C=
ENST00000644909.1:c.*727C=	ENSP00000493649.1:n.*727C=
ENST00000645152.1:n.2121C=
ENST00000645227.1:c.*1146C=	ENSP00000495021.1:n.*1146C=
ENST00000646242.1:n.7370C=
ENST00000646283.1:c.*222C=	ENSP00000494537.1:n.*222C=
ENST00000646401.1:n.2824C=
ENST00000646856.1:c.*1334C=	ENSP00000494505.1:n.*1334C=
ENST00000647294.1:c.*1388C=	ENSP00000494815.1:n.*1388C=
ENST00000647508.1:c.*222C=	ENSP00000496445.1:n.*222C=
ENST00000647515.1:c.*989C=	ENSP00000495857.1:n.*989C=
ENST00000348513.10:c.*222C=	ENSP00000323967.6:n.*222C=
ENST00000431889.6:c.*222C=	ENSP00000445370.1:n.*222C=
ENST00000469334.5:n.2045C=
ENST00000578112.5:c.*1255C=	ENSP00000464501.1:n.*1255C=
NM_003079.4:c.*222C=	NP_003070.3:n.*222C=
NM_003079.5:c.*222C= MANE Select	NP_003070.3:n.*222C=