Canonical Allele Identifier: CA410914739

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1361302257
• gnomAD v4: 22-23834169-C-A
• MyVariant Identifiers: chr22:g.24176356C>A (hg19) ; chr22:g.23834169C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834169C>A , CM000684.2:g.23834169C>A	GRCh38
NC_000022.10:g.24176356C>A , CM000684.1:g.24176356C>A	GRCh37
NC_000022.9:g.22506356C>A	NCBI36
NG_009303.1:g.52207C>A , LRG_520:g.52207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.1009C>A	ENSP00000263121.8:p.Pro337Thr
ENST00000344921.11:c.1174C>A	ENSP00000340883.6:p.Pro392Thr
ENST00000407422.8:c.1120C>A	ENSP00000383984.3:p.Pro374Thr
ENST00000644036.2:c.1147C>A MANE Select	ENSP00000494049.2:p.Pro383Thr
ENST00000644462.1:c.1865C>A	ENSP00000494283.1:n.1865C>A
ENST00000645799.1:n.2469C>A
ENST00000646723.1:n.3493C>A
ENST00000647057.1:c.*641C>A	ENSP00000494757.1:n.*641C>A
ENST00000263121.11:c.1147C>A	ENSP00000263121.7:p.Pro383Thr
ENST00000344921.10:c.1174C>A	ENSP00000340883.6:p.Pro392Thr
ENST00000407082.3:c.1009C>A	ENSP00000385226.3:p.Pro337Thr
ENST00000407422.7:c.1120C>A	ENSP00000383984.3:p.Pro374Thr
NM_001007468.1:c.1120C>A	NP_001007469.1:p.Pro374Thr
NM_003073.3:c.1147C>A , LRG_520t1:c.1147C>A	NP_003064.2:p.Pro383Thr
XM_011530345.1:c.1201C>A	XP_011528647.1:p.Pro401Thr
XM_011530346.1:c.1174C>A	XP_011528648.1:p.Pro392Thr
NM_001007468.2:c.1120C>A	NP_001007469.1:p.Pro374Thr
NM_001317946.1:c.1174C>A	NP_001304875.1:p.Pro392Thr
NM_001362877.1:c.1201C>A	NP_001349806.1:p.Pro401Thr
NM_003073.4:c.1147C>A	NP_003064.2:p.Pro383Thr
NM_001007468.3:c.1120C>A	NP_001007469.1:p.Pro374Thr
NM_001317946.2:c.1174C>A	NP_001304875.1:p.Pro392Thr
NM_001362877.2:c.1201C>A	NP_001349806.1:p.Pro401Thr
NM_003073.5:c.1147C>A MANE Select	NP_003064.2:p.Pro383Thr