Canonical Allele Identifier: CA513737163

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23816774G>A , CM000684.2:g.23816774G>A	GRCh38
NC_000022.10:g.24158961G>A , CM000684.1:g.24158961G>A	GRCh37
NC_000022.9:g.22488961G>A	NCBI36
NG_009303.1:g.34812G>A , LRG_520:g.34812G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.633G>A MANE Select	NP_003064.2:p.Lys211=
ENST00000644036.2:c.633G>A MANE Select	ENSP00000494049.2:p.Lys211=
NM_001007468.1:c.606G>A	NP_001007469.1:p.Lys202=
NM_001007468.2:c.606G>A	NP_001007469.1:p.Lys202=
NM_001007468.3:c.606G>A	NP_001007469.1:p.Lys202=
NM_001317946.1:c.660G>A	NP_001304875.1:p.Lys220=
NM_001317946.2:c.660G>A	NP_001304875.1:p.Lys220=
NM_001362877.1:c.687G>A	NP_001349806.1:p.Lys229=
NM_001362877.2:c.687G>A	NP_001349806.1:p.Lys229=
NM_003073.3:c.633G>A , LRG_520t1:c.633G>A	NP_003064.2:p.Lys211=
NM_003073.4:c.633G>A	NP_003064.2:p.Lys211=
ENST00000263121.11:c.633G>A	ENSP00000263121.7:p.Lys211=
ENST00000263121.12:c.495G>A	ENSP00000263121.8:p.Lys165=
ENST00000344921.10:c.660G>A	ENSP00000340883.6:p.Lys220=
ENST00000344921.11:c.660G>A	ENSP00000340883.6:p.Lys220=
ENST00000407082.3:c.495G>A	ENSP00000385226.3:p.Lys165=
ENST00000407422.7:c.606G>A	ENSP00000383984.3:p.Lys202=
ENST00000407422.8:c.606G>A	ENSP00000383984.3:p.Lys202=
ENST00000417137.6:c.687G>A	ENSP00000388489.2:p.Lys229=
ENST00000477836.1:n.406G>A
ENST00000477836.2:n.1784G>A
ENST00000642275.1:n.881G>A
ENST00000644462.1:c.1351G>A	ENSP00000494283.1:n.1351G>A
ENST00000644467.1:n.1427G>A
ENST00000644619.1:c.*700G>A	ENSP00000494695.1:n.*700G>A
ENST00000646723.1:n.2979G>A
ENST00000646911.1:n.545G>A
ENST00000647057.1:c.*127G>A	ENSP00000494757.1:n.*127G>A
XM_011530345.1:c.687G>A	XP_011528647.1:p.Lys229=
XM_011530346.1:c.660G>A	XP_011528648.1:p.Lys220=