Canonical Allele Identifier: CA2397960506

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23791805C= , CM000684.2:g.23791805C=	GRCh38
NC_000022.10:g.24133992C= , CM000684.1:g.24133992C=	GRCh37
NC_000022.9:g.22463992C=	NCBI36
NG_009303.1:g.9843C= , LRG_520:g.9843C=

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.143C= MANE Select	NP_003064.2:p.Pro48=
ENST00000644036.2:c.143C= MANE Select	ENSP00000494049.2:p.Pro48=
NM_001007468.1:c.143C=	NP_001007469.1:p.Pro48=
NM_001007468.2:c.143C=	NP_001007469.1:p.Pro48=
NM_001007468.3:c.143C=	NP_001007469.1:p.Pro48=
NM_001317946.1:c.143C=	NP_001304875.1:p.Pro48=
NM_001317946.2:c.143C=	NP_001304875.1:p.Pro48=
NM_001362877.1:c.143C=	NP_001349806.1:p.Pro48=
NM_001362877.2:c.143C=	NP_001349806.1:p.Pro48=
NM_003073.3:c.143C= , LRG_520t1:c.143C=	NP_003064.2:p.Pro48=
NM_003073.4:c.143C=	NP_003064.2:p.Pro48=
ENST00000263121.11:c.143C=	ENSP00000263121.7:p.Pro48=
ENST00000263121.12:c.143C=	ENSP00000263121.8:p.Pro48=
ENST00000344921.10:c.143C=	ENSP00000340883.6:p.Pro48=
ENST00000344921.11:c.143C=	ENSP00000340883.6:p.Pro48=
ENST00000407082.3:c.143C=	ENSP00000385226.3:p.Pro48=
ENST00000407082.4:c.143C=	ENSP00000385226.4:p.Pro48=
ENST00000407422.7:c.143C=	ENSP00000383984.3:p.Pro48=
ENST00000407422.8:c.143C=	ENSP00000383984.3:p.Pro48=
ENST00000417137.5:c.143C=	ENSP00000388489.1:p.Pro48=
ENST00000417137.6:c.143C=	ENSP00000388489.2:p.Pro48=
ENST00000491967.2:n.333C=
ENST00000643421.1:n.111C=
ENST00000644462.1:c.5C=	ENSP00000494283.1:p.Pro2=
ENST00000644619.1:c.143C=	ENSP00000494695.1:p.Pro48=
ENST00000646421.1:n.335C=
ENST00000646723.1:n.131C=
ENST00000646911.1:n.55C=
ENST00000647057.1:c.93+4543C=	ENSP00000494757.1:n.93+4543C=
XM_011530345.1:c.143C=	XP_011528647.1:p.Pro48=
XM_011530346.1:c.143C=	XP_011528648.1:p.Pro48=