Canonical Allele Identifier: CA513778189

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145572G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803385G>T , CM000684.2:g.23803385G>T	GRCh38
NC_000022.10:g.24145572G>T , CM000684.1:g.24145572G>T	GRCh37
NC_000022.9:g.22475572G>T	NCBI36
NG_009303.1:g.21423G>T , LRG_520:g.21423G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.453G>T	ENSP00000263121.8:p.Gly151=
ENST00000344921.11:c.618G>T	ENSP00000340883.6:p.Gly206=
ENST00000407082.4:c.426G>T	ENSP00000385226.4:p.Gly142=
ENST00000407422.8:c.564G>T	ENSP00000383984.3:p.Gly188=
ENST00000417137.6:c.645G>T	ENSP00000388489.2:p.Gly215=
ENST00000642275.1:n.839G>T
ENST00000642727.1:c.757G>T	ENSP00000495144.1:n.757G>T
ENST00000643421.1:n.559G>T
ENST00000644036.2:c.591G>T MANE Select	ENSP00000494049.2:p.Gly197=
ENST00000644462.1:c.1309G>T	ENSP00000494283.1:n.1309G>T
ENST00000644467.1:n.1385G>T
ENST00000644619.1:c.*658G>T	ENSP00000494695.1:n.*658G>T
ENST00000646723.1:n.2792G>T
ENST00000646911.1:n.503G>T
ENST00000647057.1:c.*85G>T	ENSP00000494757.1:n.*85G>T
ENST00000263121.11:c.591G>T	ENSP00000263121.7:p.Gly197=
ENST00000344921.10:c.618G>T	ENSP00000340883.6:p.Gly206=
ENST00000407082.3:c.453G>T	ENSP00000385226.3:p.Gly151=
ENST00000407422.7:c.564G>T	ENSP00000383984.3:p.Gly188=
ENST00000417137.5:c.645G>T	ENSP00000388489.1:p.Gly215=
NM_001007468.1:c.564G>T	NP_001007469.1:p.Gly188=
NM_003073.3:c.591G>T , LRG_520t1:c.591G>T	NP_003064.2:p.Gly197=
XM_011530345.1:c.645G>T	XP_011528647.1:p.Gly215=
XM_011530346.1:c.618G>T	XP_011528648.1:p.Gly206=
NM_001007468.2:c.564G>T	NP_001007469.1:p.Gly188=
NM_001317946.1:c.618G>T	NP_001304875.1:p.Gly206=
NM_001362877.1:c.645G>T	NP_001349806.1:p.Gly215=
NM_003073.4:c.591G>T	NP_003064.2:p.Gly197=
NM_001007468.3:c.564G>T	NP_001007469.1:p.Gly188=
NM_001317946.2:c.618G>T	NP_001304875.1:p.Gly206=
NM_001362877.2:c.645G>T	NP_001349806.1:p.Gly215=
NM_003073.5:c.591G>T MANE Select	NP_003064.2:p.Gly197=