Canonical Allele Identifier: CA513739532

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146042328
• gnomAD v4: 22-23833641-G-A
• MyVariant Identifiers: chr22:g.24175828G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833641G>A , CM000684.2:g.23833641G>A	GRCh38
NC_000022.10:g.24175828G>A , CM000684.1:g.24175828G>A	GRCh37
NC_000022.9:g.22505828G>A	NCBI36
NG_009303.1:g.51679G>A , LRG_520:g.51679G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.918G>A	ENSP00000263121.8:p.Leu306=
ENST00000344921.11:c.1083G>A	ENSP00000340883.6:p.Leu361=
ENST00000407422.8:c.1029G>A	ENSP00000383984.3:p.Leu343=
ENST00000644036.2:c.1056G>A MANE Select	ENSP00000494049.2:p.Leu352=
ENST00000644462.1:c.1774G>A	ENSP00000494283.1:n.1774G>A
ENST00000645799.1:n.2378G>A
ENST00000646723.1:n.3402G>A
ENST00000647057.1:c.*550G>A	ENSP00000494757.1:n.*550G>A
ENST00000263121.11:c.1056G>A	ENSP00000263121.7:p.Leu352=
ENST00000344921.10:c.1083G>A	ENSP00000340883.6:p.Leu361=
ENST00000407082.3:c.918G>A	ENSP00000385226.3:p.Leu306=
ENST00000407422.7:c.1029G>A	ENSP00000383984.3:p.Leu343=
NM_001007468.1:c.1029G>A	NP_001007469.1:p.Leu343=
NM_003073.3:c.1056G>A , LRG_520t1:c.1056G>A	NP_003064.2:p.Leu352=
XM_011530345.1:c.1110G>A	XP_011528647.1:p.Leu370=
XM_011530346.1:c.1083G>A	XP_011528648.1:p.Leu361=
NM_001007468.2:c.1029G>A	NP_001007469.1:p.Leu343=
NM_001317946.1:c.1083G>A	NP_001304875.1:p.Leu361=
NM_001362877.1:c.1110G>A	NP_001349806.1:p.Leu370=
NM_003073.4:c.1056G>A	NP_003064.2:p.Leu352=
NM_001007468.3:c.1029G>A	NP_001007469.1:p.Leu343=
NM_001317946.2:c.1083G>A	NP_001304875.1:p.Leu361=
NM_001362877.2:c.1110G>A	NP_001349806.1:p.Leu370=
NM_003073.5:c.1056G>A MANE Select	NP_003064.2:p.Leu352=