Canonical Allele Identifier: CA1024493369

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1928015664
• gnomAD v3: 22-23787000-C-G
• gnomAD v4: 22-23787000-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23787000C>G , CM000684.2:g.23787000C>G	GRCh38
NC_000022.10:g.24129187C>G , CM000684.1:g.24129187C>G	GRCh37
NC_000022.9:g.22459187C>G	NCBI36
NG_009303.1:g.5038C>G , LRG_520:g.5038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344921.11:c.-170C>G	ENSP00000340883.6:n.-170C>G
ENST00000407422.8:c.-170C>G	ENSP00000383984.3:n.-170C>G
ENST00000491967.2:n.21C>G
ENST00000644036.2:c.-170C>G MANE Select	ENSP00000494049.2:n.-170C>G
ENST00000646421.1:n.23C>G
ENST00000647057.1:c.-170C>G	ENSP00000494757.1:n.-170C>G
ENST00000263121.11:c.-170C>G	ENSP00000263121.7:n.-170C>G
ENST00000344921.10:c.-170C>G	ENSP00000340883.6:n.-170C>G
ENST00000407422.7:c.-170C>G	ENSP00000383984.3:n.-170C>G
ENST00000417137.5:c.-170C>G	ENSP00000388489.1:n.-170C>G
NM_001007468.1:c.-170C>G	NP_001007469.1:n.-170C>G
NM_003073.3:c.-170C>G , LRG_520t1:c.-170C>G	NP_003064.2:n.-170C>G
XM_011530345.1:c.-170C>G	XP_011528647.1:n.-170C>G
XM_011530346.1:c.-170C>G	XP_011528648.1:n.-170C>G
NM_001007468.2:c.-170C>G	NP_001007469.1:n.-170C>G
NM_001317946.1:c.-170C>G	NP_001304875.1:n.-170C>G
NM_001362877.1:c.-170C>G	NP_001349806.1:n.-170C>G
NM_003073.4:c.-170C>G	NP_003064.2:n.-170C>G
NM_001007468.3:c.-170C>G	NP_001007469.1:n.-170C>G
NM_001317946.2:c.-170C>G	NP_001304875.1:n.-170C>G
NM_001362877.2:c.-170C>G	NP_001349806.1:n.-170C>G
NM_003073.5:c.-170C>G MANE Select	NP_003064.2:n.-170C>G