Canonical Allele Identifier: CA410913795

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 561114
• ClinVar RCV Id: RCV000680105 ; RCV001533135 ; RCV001543528
• dbSNP Id: rs1568963037
• MyVariant Identifiers: chr22:g.24175861G>T (hg19) ; chr22:g.23833674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833674G>T , CM000684.2:g.23833674G>T	GRCh38
NC_000022.10:g.24175861G>T , CM000684.1:g.24175861G>T	GRCh37
NC_000022.9:g.22505861G>T	NCBI36
NG_009303.1:g.51712G>T , LRG_520:g.51712G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.951G>T	ENSP00000263121.8:p.Lys317Asn
ENST00000344921.11:c.1116G>T	ENSP00000340883.6:p.Lys372Asn
ENST00000407422.8:c.1062G>T	ENSP00000383984.3:p.Lys354Asn
ENST00000644036.2:c.1089G>T MANE Select	ENSP00000494049.2:p.Lys363Asn
ENST00000644462.1:c.1807G>T	ENSP00000494283.1:n.1807G>T
ENST00000645799.1:n.2411G>T
ENST00000646723.1:n.3435G>T
ENST00000647057.1:c.*583G>T	ENSP00000494757.1:n.*583G>T
ENST00000263121.11:c.1089G>T	ENSP00000263121.7:p.Lys363Asn
ENST00000344921.10:c.1116G>T	ENSP00000340883.6:p.Lys372Asn
ENST00000407082.3:c.951G>T	ENSP00000385226.3:p.Lys317Asn
ENST00000407422.7:c.1062G>T	ENSP00000383984.3:p.Lys354Asn
NM_001007468.1:c.1062G>T	NP_001007469.1:p.Lys354Asn
NM_003073.3:c.1089G>T , LRG_520t1:c.1089G>T	NP_003064.2:p.Lys363Asn
XM_011530345.1:c.1143G>T	XP_011528647.1:p.Lys381Asn
XM_011530346.1:c.1116G>T	XP_011528648.1:p.Lys372Asn
NM_001007468.2:c.1062G>T	NP_001007469.1:p.Lys354Asn
NM_001317946.1:c.1116G>T	NP_001304875.1:p.Lys372Asn
NM_001362877.1:c.1143G>T	NP_001349806.1:p.Lys381Asn
NM_003073.4:c.1089G>T	NP_003064.2:p.Lys363Asn
NM_001007468.3:c.1062G>T	NP_001007469.1:p.Lys354Asn
NM_001317946.2:c.1116G>T	NP_001304875.1:p.Lys372Asn
NM_001362877.2:c.1143G>T	NP_001349806.1:p.Lys381Asn
NM_003073.5:c.1089G>T MANE Select	NP_003064.2:p.Lys363Asn