Canonical Allele Identifier: CA410914457

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1057517825
• gnomAD v4: 22-23834143-G-C
• MyVariant Identifiers: chr22:g.24176330G>C (hg19) ; chr22:g.23834143G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834143G>C , CM000684.2:g.23834143G>C	GRCh38
NC_000022.10:g.24176330G>C , CM000684.1:g.24176330G>C	GRCh37
NC_000022.9:g.22506330G>C	NCBI36
NG_009303.1:g.52181G>C , LRG_520:g.52181G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.983G>C	ENSP00000263121.8:p.Arg328Pro
ENST00000344921.11:c.1148G>C	ENSP00000340883.6:p.Arg383Pro
ENST00000407422.8:c.1094G>C	ENSP00000383984.3:p.Arg365Pro
ENST00000644036.2:c.1121G>C MANE Select	ENSP00000494049.2:p.Arg374Pro
ENST00000644462.1:c.1839G>C	ENSP00000494283.1:n.1839G>C
ENST00000645799.1:n.2443G>C
ENST00000646723.1:n.3467G>C
ENST00000647057.1:c.*615G>C	ENSP00000494757.1:n.*615G>C
ENST00000263121.11:c.1121G>C	ENSP00000263121.7:p.Arg374Pro
ENST00000344921.10:c.1148G>C	ENSP00000340883.6:p.Arg383Pro
ENST00000407082.3:c.983G>C	ENSP00000385226.3:p.Arg328Pro
ENST00000407422.7:c.1094G>C	ENSP00000383984.3:p.Arg365Pro
NM_001007468.1:c.1094G>C	NP_001007469.1:p.Arg365Pro
NM_003073.3:c.1121G>C , LRG_520t1:c.1121G>C	NP_003064.2:p.Arg374Pro
XM_011530345.1:c.1175G>C	XP_011528647.1:p.Arg392Pro
XM_011530346.1:c.1148G>C	XP_011528648.1:p.Arg383Pro
NM_001007468.2:c.1094G>C	NP_001007469.1:p.Arg365Pro
NM_001317946.1:c.1148G>C	NP_001304875.1:p.Arg383Pro
NM_001362877.1:c.1175G>C	NP_001349806.1:p.Arg392Pro
NM_003073.4:c.1121G>C	NP_003064.2:p.Arg374Pro
NM_001007468.3:c.1094G>C	NP_001007469.1:p.Arg365Pro
NM_001317946.2:c.1148G>C	NP_001304875.1:p.Arg383Pro
NM_001362877.2:c.1175G>C	NP_001349806.1:p.Arg392Pro
NM_003073.5:c.1121G>C MANE Select	NP_003064.2:p.Arg374Pro