Canonical Allele Identifier: CA2818530658

Gene: SMARCB1

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834404G>T , CM000684.2:g.23834404G>T	GRCh38
NC_000022.10:g.24176591G>T , CM000684.1:g.24176591G>T	GRCh37
NC_000022.9:g.22506591G>T	NCBI36
NG_009303.1:g.52442G>T , LRG_520:g.52442G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*224G>T	ENSP00000263121.8:n.*224G>T
ENST00000344921.11:c.*224G>T	ENSP00000340883.6:n.*224G>T
ENST00000407422.8:c.*224G>T	ENSP00000383984.3:n.*224G>T
ENST00000644036.2:c.*224G>T MANE Select	ENSP00000494049.2:n.*224G>T
ENST00000647057.1:c.*876G>T	ENSP00000494757.1:n.*876G>T
ENST00000263121.11:c.*224G>T	ENSP00000263121.7:n.*224G>T
ENST00000344921.10:c.*224G>T	ENSP00000340883.6:n.*224G>T
ENST00000407422.7:c.*224G>T	ENSP00000383984.3:n.*224G>T
NM_001007468.1:c.*224G>T	NP_001007469.1:n.*224G>T
NM_003073.3:c.*224G>T , LRG_520t1:c.*224G>T	NP_003064.2:n.*224G>T
XM_011530345.1:c.*224G>T	XP_011528647.1:n.*224G>T
XM_011530346.1:c.*224G>T	XP_011528648.1:n.*224G>T
NM_001007468.2:c.*224G>T	NP_001007469.1:n.*224G>T
NM_001317946.1:c.*224G>T	NP_001304875.1:n.*224G>T
NM_001362877.1:c.*224G>T	NP_001349806.1:n.*224G>T
NM_003073.4:c.*224G>T	NP_003064.2:n.*224G>T
NM_001007468.3:c.*224G>T	NP_001007469.1:n.*224G>T
NM_001317946.2:c.*224G>T	NP_001304875.1:n.*224G>T
NM_001362877.2:c.*224G>T	NP_001349806.1:n.*224G>T
NM_003073.5:c.*224G>T MANE Select	NP_003064.2:n.*224G>T