Canonical Allele Identifier: CA2655714349

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834320-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834320G>T , CM000684.2:g.23834320G>T	GRCh38
NC_000022.10:g.24176507G>T , CM000684.1:g.24176507G>T	GRCh37
NC_000022.9:g.22506507G>T	NCBI36
NG_009303.1:g.52358G>T , LRG_520:g.52358G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*140G>T	ENSP00000263121.8:n.*140G>T
ENST00000344921.11:c.*140G>T	ENSP00000340883.6:n.*140G>T
ENST00000407422.8:c.*140G>T	ENSP00000383984.3:n.*140G>T
ENST00000644036.2:c.*140G>T MANE Select	ENSP00000494049.2:n.*140G>T
ENST00000644462.1:c.2016G>T	ENSP00000494283.1:n.2016G>T
ENST00000645799.1:n.2620G>T
ENST00000647057.1:c.*792G>T	ENSP00000494757.1:n.*792G>T
ENST00000263121.11:c.*140G>T	ENSP00000263121.7:n.*140G>T
ENST00000344921.10:c.*140G>T	ENSP00000340883.6:n.*140G>T
ENST00000407422.7:c.*140G>T	ENSP00000383984.3:n.*140G>T
NM_001007468.1:c.*140G>T	NP_001007469.1:n.*140G>T
NM_003073.3:c.*140G>T , LRG_520t1:c.*140G>T	NP_003064.2:n.*140G>T
XM_011530345.1:c.*140G>T	XP_011528647.1:n.*140G>T
XM_011530346.1:c.*140G>T	XP_011528648.1:n.*140G>T
NM_001007468.2:c.*140G>T	NP_001007469.1:n.*140G>T
NM_001317946.1:c.*140G>T	NP_001304875.1:n.*140G>T
NM_001362877.1:c.*140G>T	NP_001349806.1:n.*140G>T
NM_003073.4:c.*140G>T	NP_003064.2:n.*140G>T
NM_001007468.3:c.*140G>T	NP_001007469.1:n.*140G>T
NM_001317946.2:c.*140G>T	NP_001304875.1:n.*140G>T
NM_001362877.2:c.*140G>T	NP_001349806.1:n.*140G>T
NM_003073.5:c.*140G>T MANE Select	NP_003064.2:n.*140G>T