Canonical Allele Identifier: CA410912905

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24175767C>A (hg19) ; chr22:g.23833580C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23833580C>A , CM000684.2:g.23833580C>A	GRCh38
NC_000022.10:g.24175767C>A , CM000684.1:g.24175767C>A	GRCh37
NC_000022.9:g.22505767C>A	NCBI36
NG_009303.1:g.51618C>A , LRG_520:g.51618C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.857C>A	ENSP00000263121.8:p.Pro286His
ENST00000344921.11:c.1022C>A	ENSP00000340883.6:p.Pro341His
ENST00000407422.8:c.968C>A	ENSP00000383984.3:p.Pro323His
ENST00000477836.2:n.2146C>A
ENST00000644036.2:c.995C>A MANE Select	ENSP00000494049.2:p.Pro332His
ENST00000644462.1:c.1713C>A	ENSP00000494283.1:n.1713C>A
ENST00000645799.1:n.2317C>A
ENST00000646723.1:n.3341C>A
ENST00000647057.1:c.*489C>A	ENSP00000494757.1:n.*489C>A
ENST00000263121.11:c.995C>A	ENSP00000263121.7:p.Pro332His
ENST00000344921.10:c.1022C>A	ENSP00000340883.6:p.Pro341His
ENST00000407082.3:c.857C>A	ENSP00000385226.3:p.Pro286His
ENST00000407422.7:c.968C>A	ENSP00000383984.3:p.Pro323His
NM_001007468.1:c.968C>A	NP_001007469.1:p.Pro323His
NM_003073.3:c.995C>A , LRG_520t1:c.995C>A	NP_003064.2:p.Pro332His
XM_011530345.1:c.1049C>A	XP_011528647.1:p.Pro350His
XM_011530346.1:c.1022C>A	XP_011528648.1:p.Pro341His
NM_001007468.2:c.968C>A	NP_001007469.1:p.Pro323His
NM_001317946.1:c.1022C>A	NP_001304875.1:p.Pro341His
NM_001362877.1:c.1049C>A	NP_001349806.1:p.Pro350His
NM_003073.4:c.995C>A	NP_003064.2:p.Pro332His
NM_001007468.3:c.968C>A	NP_001007469.1:p.Pro323His
NM_001317946.2:c.1022C>A	NP_001304875.1:p.Pro341His
NM_001362877.2:c.1049C>A	NP_001349806.1:p.Pro350His
NM_003073.5:c.995C>A MANE Select	NP_003064.2:p.Pro332His