Canonical Allele Identifier: CA410935941

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24145578G>C (hg19) ; chr22:g.23803391G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803391G>C , CM000684.2:g.23803391G>C	GRCh38
NC_000022.10:g.24145578G>C , CM000684.1:g.24145578G>C	GRCh37
NC_000022.9:g.22475578G>C	NCBI36
NG_009303.1:g.21429G>C , LRG_520:g.21429G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.459G>C	ENSP00000263121.8:p.Lys153Asn
ENST00000344921.11:c.624G>C	ENSP00000340883.6:p.Lys208Asn
ENST00000407082.4:c.432G>C	ENSP00000385226.4:p.Lys144Asn
ENST00000407422.8:c.570G>C	ENSP00000383984.3:p.Lys190Asn
ENST00000417137.6:c.651G>C	ENSP00000388489.2:p.Lys217Asn
ENST00000642275.1:n.845G>C
ENST00000642727.1:c.763G>C	ENSP00000495144.1:n.763G>C
ENST00000643421.1:n.565G>C
ENST00000644036.2:c.597G>C MANE Select	ENSP00000494049.2:p.Lys199Asn
ENST00000644462.1:c.1315G>C	ENSP00000494283.1:n.1315G>C
ENST00000644467.1:n.1391G>C
ENST00000644619.1:c.*664G>C	ENSP00000494695.1:n.*664G>C
ENST00000646723.1:n.2798G>C
ENST00000646911.1:n.509G>C
ENST00000647057.1:c.*91G>C	ENSP00000494757.1:n.*91G>C
ENST00000263121.11:c.597G>C	ENSP00000263121.7:p.Lys199Asn
ENST00000344921.10:c.624G>C	ENSP00000340883.6:p.Lys208Asn
ENST00000407082.3:c.459G>C	ENSP00000385226.3:p.Lys153Asn
ENST00000407422.7:c.570G>C	ENSP00000383984.3:p.Lys190Asn
ENST00000417137.5:c.651G>C	ENSP00000388489.1:p.Lys217Asn
NM_001007468.1:c.570G>C	NP_001007469.1:p.Lys190Asn
NM_003073.3:c.597G>C , LRG_520t1:c.597G>C	NP_003064.2:p.Lys199Asn
XM_011530345.1:c.651G>C	XP_011528647.1:p.Lys217Asn
XM_011530346.1:c.624G>C	XP_011528648.1:p.Lys208Asn
NM_001007468.2:c.570G>C	NP_001007469.1:p.Lys190Asn
NM_001317946.1:c.624G>C	NP_001304875.1:p.Lys208Asn
NM_001362877.1:c.651G>C	NP_001349806.1:p.Lys217Asn
NM_003073.4:c.597G>C	NP_003064.2:p.Lys199Asn
NM_001007468.3:c.570G>C	NP_001007469.1:p.Lys190Asn
NM_001317946.2:c.624G>C	NP_001304875.1:p.Lys208Asn
NM_001362877.2:c.651G>C	NP_001349806.1:p.Lys217Asn
NM_003073.5:c.597G>C MANE Select	NP_003064.2:p.Lys199Asn