Canonical Allele Identifier: CA151127

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 126368
• ClinVar RCV Id: RCV000114311 ; RCV000589103 ; RCV000272799 ; RCV000368609 ; RCV000563757
• dbSNP Id: rs2229354
• ExAC: 22:24167513 G / A
• gnomAD v2: 22-24167513-G-A
• gnomAD v3: 22-23825326-G-A
• gnomAD v4: 22-23825326-G-A
• MyVariant Identifiers: chr22:g.24167513G>A (hg19) ; chr22:g.23825326G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23825326G>A , CM000684.2:g.23825326G>A	GRCh38
NC_000022.10:g.24167513G>A , CM000684.1:g.24167513G>A	GRCh37
NC_000022.9:g.22497513G>A	NCBI36
NG_009303.1:g.43364G>A , LRG_520:g.43364G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.759G>A	ENSP00000263121.8:p.Ser253=
ENST00000344921.11:c.924G>A	ENSP00000340883.6:p.Ser308=
ENST00000407422.8:c.870G>A	ENSP00000383984.3:p.Ser290=
ENST00000477836.2:n.2048G>A
ENST00000644036.2:c.897G>A MANE Select	ENSP00000494049.2:p.Ser299=
ENST00000644462.1:c.1615G>A	ENSP00000494283.1:n.1615G>A
ENST00000645799.1:n.2219G>A
ENST00000646723.1:n.3243G>A
ENST00000646911.1:n.809G>A
ENST00000647057.1:c.*391G>A	ENSP00000494757.1:n.*391G>A
ENST00000263121.11:c.897G>A	ENSP00000263121.7:p.Ser299=
ENST00000344921.10:c.924G>A	ENSP00000340883.6:p.Ser308=
ENST00000407082.3:c.759G>A	ENSP00000385226.3:p.Ser253=
ENST00000407422.7:c.870G>A	ENSP00000383984.3:p.Ser290=
NM_001007468.1:c.870G>A	NP_001007469.1:p.Ser290=
NM_003073.3:c.897G>A , LRG_520t1:c.897G>A	NP_003064.2:p.Ser299=
XM_011530345.1:c.951G>A	XP_011528647.1:p.Ser317=
XM_011530346.1:c.924G>A	XP_011528648.1:p.Ser308=
NM_001007468.2:c.870G>A	NP_001007469.1:p.Ser290=
NM_001317946.1:c.924G>A	NP_001304875.1:p.Ser308=
NM_001362877.1:c.951G>A	NP_001349806.1:p.Ser317=
NM_003073.4:c.897G>A	NP_003064.2:p.Ser299=
NM_001007468.3:c.870G>A	NP_001007469.1:p.Ser290=
NM_001317946.2:c.924G>A	NP_001304875.1:p.Ser308=
NM_001362877.2:c.951G>A	NP_001349806.1:p.Ser317=
NM_003073.5:c.897G>A MANE Select	NP_003064.2:p.Ser299=