Canonical Allele Identifier: CA410935931

Gene: SMARCB1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.457A>C	ENSP00000263121.8:p.Lys153Gln
ENST00000344921.11:c.622A>C	ENSP00000340883.6:p.Lys208Gln
ENST00000407082.4:c.430A>C	ENSP00000385226.4:p.Lys144Gln
ENST00000407422.8:c.568A>C	ENSP00000383984.3:p.Lys190Gln
ENST00000417137.6:c.649A>C	ENSP00000388489.2:p.Lys217Gln
ENST00000642275.1:n.843A>C
ENST00000642727.1:c.761A>C	ENSP00000495144.1:n.761A>C
ENST00000643421.1:n.563A>C
ENST00000644036.2:c.595A>C MANE Select	ENSP00000494049.2:p.Lys199Gln
ENST00000644462.1:c.1313A>C	ENSP00000494283.1:n.1313A>C
ENST00000644467.1:n.1389A>C
ENST00000644619.1:c.*662A>C	ENSP00000494695.1:n.*662A>C
ENST00000646723.1:n.2796A>C
ENST00000646911.1:n.507A>C
ENST00000647057.1:c.*89A>C	ENSP00000494757.1:n.*89A>C
ENST00000263121.11:c.595A>C	ENSP00000263121.7:p.Lys199Gln
ENST00000344921.10:c.622A>C	ENSP00000340883.6:p.Lys208Gln
ENST00000407082.3:c.457A>C	ENSP00000385226.3:p.Lys153Gln
ENST00000407422.7:c.568A>C	ENSP00000383984.3:p.Lys190Gln
ENST00000417137.5:c.649A>C	ENSP00000388489.1:p.Lys217Gln
NM_001007468.1:c.568A>C	NP_001007469.1:p.Lys190Gln
NM_003073.3:c.595A>C , LRG_520t1:c.595A>C	NP_003064.2:p.Lys199Gln
XM_011530345.1:c.649A>C	XP_011528647.1:p.Lys217Gln
XM_011530346.1:c.622A>C	XP_011528648.1:p.Lys208Gln
NM_001007468.2:c.568A>C	NP_001007469.1:p.Lys190Gln
NM_001317946.1:c.622A>C	NP_001304875.1:p.Lys208Gln
NM_001362877.1:c.649A>C	NP_001349806.1:p.Lys217Gln
NM_003073.4:c.595A>C	NP_003064.2:p.Lys199Gln
NM_001007468.3:c.568A>C	NP_001007469.1:p.Lys190Gln
NM_001317946.2:c.622A>C	NP_001304875.1:p.Lys208Gln
NM_001362877.2:c.649A>C	NP_001349806.1:p.Lys217Gln
NM_003073.5:c.595A>C MANE Select	NP_003064.2:p.Lys199Gln