Canonical Allele Identifier: CA322592283

Gene: SMARCB1

Linked Data

• dbSNP Id: rs74852294
• gnomAD v4: 22-23786989-G-C
• MyVariant Identifiers: chr22:g.24129176G>C (hg19) ; chr22:g.23786989G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23786989G>C , CM000684.2:g.23786989G>C	GRCh38
NC_000022.10:g.24129176G>C , CM000684.1:g.24129176G>C	GRCh37
NC_000022.9:g.22459176G>C	NCBI36
NG_009303.1:g.5027G>C , LRG_520:g.5027G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344921.11:c.-181G>C	ENSP00000340883.6:n.-181G>C
ENST00000407422.8:c.-181G>C	ENSP00000383984.3:n.-181G>C
ENST00000491967.2:n.10G>C
ENST00000644036.2:c.-181G>C MANE Select	ENSP00000494049.2:n.-181G>C
ENST00000646421.1:n.12G>C
ENST00000647057.1:c.-181G>C	ENSP00000494757.1:n.-181G>C
ENST00000263121.11:c.-181G>C	ENSP00000263121.7:n.-181G>C
ENST00000344921.10:c.-181G>C	ENSP00000340883.6:n.-181G>C
ENST00000417137.5:c.-181G>C	ENSP00000388489.1:n.-181G>C
NM_001007468.1:c.-181G>C	NP_001007469.1:n.-181G>C
NM_003073.3:c.-181G>C , LRG_520t1:c.-181G>C	NP_003064.2:n.-181G>C
XM_011530345.1:c.-181G>C	XP_011528647.1:n.-181G>C
XM_011530346.1:c.-181G>C	XP_011528648.1:n.-181G>C
NM_001007468.2:c.-181G>C	NP_001007469.1:n.-181G>C
NM_001317946.1:c.-181G>C	NP_001304875.1:n.-181G>C
NM_001362877.1:c.-181G>C	NP_001349806.1:n.-181G>C
NM_003073.4:c.-181G>C	NP_003064.2:n.-181G>C
NM_001007468.3:c.-181G>C	NP_001007469.1:n.-181G>C
NM_001317946.2:c.-181G>C	NP_001304875.1:n.-181G>C
NM_001362877.2:c.-181G>C	NP_001349806.1:n.-181G>C
NM_003073.5:c.-181G>C MANE Select	NP_003064.2:n.-181G>C