Canonical Allele Identifier: CA2397981105

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834174C= , CM000684.2:g.23834174C=	GRCh38
NC_000022.10:g.24176361C= , CM000684.1:g.24176361C=	GRCh37
NC_000022.9:g.22506361C=	NCBI36
NG_009303.1:g.52212C= , LRG_520:g.52212C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1014C=	ENSP00000263121.8:p.Ala338=
ENST00000344921.11:c.1179C=	ENSP00000340883.6:p.Ala393=
ENST00000407422.8:c.1125C=	ENSP00000383984.3:p.Ala375=
ENST00000644036.2:c.1152C= MANE Select	ENSP00000494049.2:p.Ala384=
ENST00000644462.1:c.1870C=	ENSP00000494283.1:n.1870C=
ENST00000645799.1:n.2474C=
ENST00000646723.1:n.3498C=
ENST00000647057.1:c.*646C=	ENSP00000494757.1:n.*646C=
ENST00000263121.11:c.1152C=	ENSP00000263121.7:p.Ala384=
ENST00000344921.10:c.1179C=	ENSP00000340883.6:p.Ala393=
ENST00000407082.3:c.1014C=	ENSP00000385226.3:p.Ala338=
ENST00000407422.7:c.1125C=	ENSP00000383984.3:p.Ala375=
NM_001007468.1:c.1125C=	NP_001007469.1:p.Ala375=
NM_003073.3:c.1152C= , LRG_520t1:c.1152C=	NP_003064.2:p.Ala384=
XM_011530345.1:c.1206C=	XP_011528647.1:p.Ala402=
XM_011530346.1:c.1179C=	XP_011528648.1:p.Ala393=
NM_001007468.2:c.1125C=	NP_001007469.1:p.Ala375=
NM_001317946.1:c.1179C=	NP_001304875.1:p.Ala393=
NM_001362877.1:c.1206C=	NP_001349806.1:p.Ala402=
NM_003073.4:c.1152C=	NP_003064.2:p.Ala384=
NM_001007468.3:c.1125C=	NP_001007469.1:p.Ala375=
NM_001317946.2:c.1179C=	NP_001304875.1:p.Ala393=
NM_001362877.2:c.1206C=	NP_001349806.1:p.Ala402=
NM_003073.5:c.1152C= MANE Select	NP_003064.2:p.Ala384=