Canonical Allele Identifier: CA410935796

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803362C>T , CM000684.2:g.23803362C>T	GRCh38
NC_000022.10:g.24145549C>T , CM000684.1:g.24145549C>T	GRCh37
NC_000022.9:g.22475549C>T	NCBI36
NG_009303.1:g.21400C>T , LRG_520:g.21400C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003073.5:c.568C>T MANE Select	NP_003064.2:p.Arg190Trp
ENST00000644036.2:c.568C>T MANE Select	ENSP00000494049.2:p.Arg190Trp
NM_001007468.1:c.541C>T	NP_001007469.1:p.Arg181Trp
NM_001007468.2:c.541C>T	NP_001007469.1:p.Arg181Trp
NM_001007468.3:c.541C>T	NP_001007469.1:p.Arg181Trp
NM_001317946.1:c.595C>T	NP_001304875.1:p.Arg199Trp
NM_001317946.2:c.595C>T	NP_001304875.1:p.Arg199Trp
NM_001362877.1:c.622C>T	NP_001349806.1:p.Arg208Trp
NM_001362877.2:c.622C>T	NP_001349806.1:p.Arg208Trp
NM_003073.3:c.568C>T , LRG_520t1:c.568C>T	NP_003064.2:p.Arg190Trp
NM_003073.4:c.568C>T	NP_003064.2:p.Arg190Trp
ENST00000263121.11:c.568C>T	ENSP00000263121.7:p.Arg190Trp
ENST00000263121.12:c.430C>T	ENSP00000263121.8:p.Arg144Trp
ENST00000344921.10:c.595C>T	ENSP00000340883.6:p.Arg199Trp
ENST00000344921.11:c.595C>T	ENSP00000340883.6:p.Arg199Trp
ENST00000407082.3:c.430C>T	ENSP00000385226.3:p.Arg144Trp
ENST00000407082.4:c.403C>T	ENSP00000385226.4:p.Arg135Trp
ENST00000407422.7:c.541C>T	ENSP00000383984.3:p.Arg181Trp
ENST00000407422.8:c.541C>T	ENSP00000383984.3:p.Arg181Trp
ENST00000417137.5:c.622C>T	ENSP00000388489.1:p.Arg208Trp
ENST00000417137.6:c.622C>T	ENSP00000388489.2:p.Arg208Trp
ENST00000642275.1:n.816C>T
ENST00000642727.1:c.734C>T	ENSP00000495144.1:n.734C>T
ENST00000643421.1:n.536C>T
ENST00000644462.1:c.1286C>T	ENSP00000494283.1:n.1286C>T
ENST00000644467.1:n.1362C>T
ENST00000644619.1:c.*635C>T	ENSP00000494695.1:n.*635C>T
ENST00000646723.1:n.2769C>T
ENST00000646911.1:n.480C>T
ENST00000647057.1:c.*62C>T	ENSP00000494757.1:n.*62C>T
XM_011530345.1:c.622C>T	XP_011528647.1:p.Arg208Trp
XM_011530346.1:c.595C>T	XP_011528648.1:p.Arg199Trp