Canonical Allele Identifier: CA513739385

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24175771G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833584G>T , CM000684.2:g.23833584G>T	GRCh38
NC_000022.10:g.24175771G>T , CM000684.1:g.24175771G>T	GRCh37
NC_000022.9:g.22505771G>T	NCBI36
NG_009303.1:g.51622G>T , LRG_520:g.51622G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.861G>T	ENSP00000263121.8:p.Leu287=
ENST00000344921.11:c.1026G>T	ENSP00000340883.6:p.Leu342=
ENST00000407422.8:c.972G>T	ENSP00000383984.3:p.Leu324=
ENST00000477836.2:n.2150G>T
ENST00000644036.2:c.999G>T MANE Select	ENSP00000494049.2:p.Leu333=
ENST00000644462.1:c.1717G>T	ENSP00000494283.1:n.1717G>T
ENST00000645799.1:n.2321G>T
ENST00000646723.1:n.3345G>T
ENST00000647057.1:c.*493G>T	ENSP00000494757.1:n.*493G>T
ENST00000263121.11:c.999G>T	ENSP00000263121.7:p.Leu333=
ENST00000344921.10:c.1026G>T	ENSP00000340883.6:p.Leu342=
ENST00000407082.3:c.861G>T	ENSP00000385226.3:p.Leu287=
ENST00000407422.7:c.972G>T	ENSP00000383984.3:p.Leu324=
NM_001007468.1:c.972G>T	NP_001007469.1:p.Leu324=
NM_003073.3:c.999G>T , LRG_520t1:c.999G>T	NP_003064.2:p.Leu333=
XM_011530345.1:c.1053G>T	XP_011528647.1:p.Leu351=
XM_011530346.1:c.1026G>T	XP_011528648.1:p.Leu342=
NM_001007468.2:c.972G>T	NP_001007469.1:p.Leu324=
NM_001317946.1:c.1026G>T	NP_001304875.1:p.Leu342=
NM_001362877.1:c.1053G>T	NP_001349806.1:p.Leu351=
NM_003073.4:c.999G>T	NP_003064.2:p.Leu333=
NM_001007468.3:c.972G>T	NP_001007469.1:p.Leu324=
NM_001317946.2:c.1026G>T	NP_001304875.1:p.Leu342=
NM_001362877.2:c.1053G>T	NP_001349806.1:p.Leu351=
NM_003073.5:c.999G>T MANE Select	NP_003064.2:p.Leu333=