Canonical Allele Identifier: CA410913819

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1039859
• ClinVar RCV Id: RCV001343414
• dbSNP Id: rs2030793132
• MyVariant Identifiers: chr22:g.24175863A>T (hg19) ; chr22:g.23833676A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833676A>T , CM000684.2:g.23833676A>T	GRCh38
NC_000022.10:g.24175863A>T , CM000684.1:g.24175863A>T	GRCh37
NC_000022.9:g.22505863A>T	NCBI36
NG_009303.1:g.51714A>T , LRG_520:g.51714A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.953A>T	ENSP00000263121.8:p.Lys318Met
ENST00000344921.11:c.1118A>T	ENSP00000340883.6:p.Lys373Met
ENST00000407422.8:c.1064A>T	ENSP00000383984.3:p.Lys355Met
ENST00000644036.2:c.1091A>T MANE Select	ENSP00000494049.2:p.Lys364Met
ENST00000644462.1:c.1809A>T	ENSP00000494283.1:n.1809A>T
ENST00000645799.1:n.2413A>T
ENST00000646723.1:n.3437A>T
ENST00000647057.1:c.*585A>T	ENSP00000494757.1:n.*585A>T
ENST00000263121.11:c.1091A>T	ENSP00000263121.7:p.Lys364Met
ENST00000344921.10:c.1118A>T	ENSP00000340883.6:p.Lys373Met
ENST00000407082.3:c.953A>T	ENSP00000385226.3:p.Lys318Met
ENST00000407422.7:c.1064A>T	ENSP00000383984.3:p.Lys355Met
NM_001007468.1:c.1064A>T	NP_001007469.1:p.Lys355Met
NM_003073.3:c.1091A>T , LRG_520t1:c.1091A>T	NP_003064.2:p.Lys364Met
XM_011530345.1:c.1145A>T	XP_011528647.1:p.Lys382Met
XM_011530346.1:c.1118A>T	XP_011528648.1:p.Lys373Met
NM_001007468.2:c.1064A>T	NP_001007469.1:p.Lys355Met
NM_001317946.1:c.1118A>T	NP_001304875.1:p.Lys373Met
NM_001362877.1:c.1145A>T	NP_001349806.1:p.Lys382Met
NM_003073.4:c.1091A>T	NP_003064.2:p.Lys364Met
NM_001007468.3:c.1064A>T	NP_001007469.1:p.Lys355Met
NM_001317946.2:c.1118A>T	NP_001304875.1:p.Lys373Met
NM_001362877.2:c.1145A>T	NP_001349806.1:p.Lys382Met
NM_003073.5:c.1091A>T MANE Select	NP_003064.2:p.Lys364Met