Canonical Allele Identifier: CA410935934

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145576A>T (hg19) ; chr22:g.23803389A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803389A>T , CM000684.2:g.23803389A>T	GRCh38
NC_000022.10:g.24145576A>T , CM000684.1:g.24145576A>T	GRCh37
NC_000022.9:g.22475576A>T	NCBI36
NG_009303.1:g.21427A>T , LRG_520:g.21427A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.457A>T	ENSP00000263121.8:p.Lys153Ter
ENST00000344921.11:c.622A>T	ENSP00000340883.6:p.Lys208Ter
ENST00000407082.4:c.430A>T	ENSP00000385226.4:p.Lys144Ter
ENST00000407422.8:c.568A>T	ENSP00000383984.3:p.Lys190Ter
ENST00000417137.6:c.649A>T	ENSP00000388489.2:p.Lys217Ter
ENST00000642275.1:n.843A>T
ENST00000642727.1:c.761A>T	ENSP00000495144.1:n.761A>T
ENST00000643421.1:n.563A>T
ENST00000644036.2:c.595A>T MANE Select	ENSP00000494049.2:p.Lys199Ter
ENST00000644462.1:c.1313A>T	ENSP00000494283.1:n.1313A>T
ENST00000644467.1:n.1389A>T
ENST00000644619.1:c.*662A>T	ENSP00000494695.1:n.*662A>T
ENST00000646723.1:n.2796A>T
ENST00000646911.1:n.507A>T
ENST00000647057.1:c.*89A>T	ENSP00000494757.1:n.*89A>T
ENST00000263121.11:c.595A>T	ENSP00000263121.7:p.Lys199Ter
ENST00000344921.10:c.622A>T	ENSP00000340883.6:p.Lys208Ter
ENST00000407082.3:c.457A>T	ENSP00000385226.3:p.Lys153Ter
ENST00000407422.7:c.568A>T	ENSP00000383984.3:p.Lys190Ter
ENST00000417137.5:c.649A>T	ENSP00000388489.1:p.Lys217Ter
NM_001007468.1:c.568A>T	NP_001007469.1:p.Lys190Ter
NM_003073.3:c.595A>T , LRG_520t1:c.595A>T	NP_003064.2:p.Lys199Ter
XM_011530345.1:c.649A>T	XP_011528647.1:p.Lys217Ter
XM_011530346.1:c.622A>T	XP_011528648.1:p.Lys208Ter
NM_001007468.2:c.568A>T	NP_001007469.1:p.Lys190Ter
NM_001317946.1:c.622A>T	NP_001304875.1:p.Lys208Ter
NM_001362877.1:c.649A>T	NP_001349806.1:p.Lys217Ter
NM_003073.4:c.595A>T	NP_003064.2:p.Lys199Ter
NM_001007468.3:c.568A>T	NP_001007469.1:p.Lys190Ter
NM_001317946.2:c.622A>T	NP_001304875.1:p.Lys208Ter
NM_001362877.2:c.649A>T	NP_001349806.1:p.Lys217Ter
NM_003073.5:c.595A>T MANE Select	NP_003064.2:p.Lys199Ter