Canonical Allele Identifier: CA410935928

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145575G>T (hg19) ; chr22:g.23803388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803388G>T , CM000684.2:g.23803388G>T	GRCh38
NC_000022.10:g.24145575G>T , CM000684.1:g.24145575G>T	GRCh37
NC_000022.9:g.22475575G>T	NCBI36
NG_009303.1:g.21426G>T , LRG_520:g.21426G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.456G>T	ENSP00000263121.8:p.Gln152His
ENST00000344921.11:c.621G>T	ENSP00000340883.6:p.Gln207His
ENST00000407082.4:c.429G>T	ENSP00000385226.4:p.Gln143His
ENST00000407422.8:c.567G>T	ENSP00000383984.3:p.Gln189His
ENST00000417137.6:c.648G>T	ENSP00000388489.2:p.Gln216His
ENST00000642275.1:n.842G>T
ENST00000642727.1:c.760G>T	ENSP00000495144.1:n.760G>T
ENST00000643421.1:n.562G>T
ENST00000644036.2:c.594G>T MANE Select	ENSP00000494049.2:p.Gln198His
ENST00000644462.1:c.1312G>T	ENSP00000494283.1:n.1312G>T
ENST00000644467.1:n.1388G>T
ENST00000644619.1:c.*661G>T	ENSP00000494695.1:n.*661G>T
ENST00000646723.1:n.2795G>T
ENST00000646911.1:n.506G>T
ENST00000647057.1:c.*88G>T	ENSP00000494757.1:n.*88G>T
ENST00000263121.11:c.594G>T	ENSP00000263121.7:p.Gln198His
ENST00000344921.10:c.621G>T	ENSP00000340883.6:p.Gln207His
ENST00000407082.3:c.456G>T	ENSP00000385226.3:p.Gln152His
ENST00000407422.7:c.567G>T	ENSP00000383984.3:p.Gln189His
ENST00000417137.5:c.648G>T	ENSP00000388489.1:p.Gln216His
NM_001007468.1:c.567G>T	NP_001007469.1:p.Gln189His
NM_003073.3:c.594G>T , LRG_520t1:c.594G>T	NP_003064.2:p.Gln198His
XM_011530345.1:c.648G>T	XP_011528647.1:p.Gln216His
XM_011530346.1:c.621G>T	XP_011528648.1:p.Gln207His
NM_001007468.2:c.567G>T	NP_001007469.1:p.Gln189His
NM_001317946.1:c.621G>T	NP_001304875.1:p.Gln207His
NM_001362877.1:c.648G>T	NP_001349806.1:p.Gln216His
NM_003073.4:c.594G>T	NP_003064.2:p.Gln198His
NM_001007468.3:c.567G>T	NP_001007469.1:p.Gln189His
NM_001317946.2:c.621G>T	NP_001304875.1:p.Gln207His
NM_001362877.2:c.648G>T	NP_001349806.1:p.Gln216His
NM_003073.5:c.594G>T MANE Select	NP_003064.2:p.Gln198His