Canonical Allele Identifier: CA513770464

Gene: SMARCB1

Linked Data

• dbSNP Id: rs1445015081
• MyVariant Identifiers: chr22:g.24135840T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793653T>A , CM000684.2:g.23793653T>A	GRCh38
NC_000022.10:g.24135840T>A , CM000684.1:g.24135840T>A	GRCh37
NC_000022.9:g.22465840T>A	NCBI36
NG_009303.1:g.11691T>A , LRG_520:g.11691T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.327T>A	ENSP00000263121.8:p.Ala109=
ENST00000344921.11:c.300T>A	ENSP00000340883.6:p.Ala100=
ENST00000407082.4:c.300T>A	ENSP00000385226.4:p.Ala100=
ENST00000407422.8:c.300T>A	ENSP00000383984.3:p.Ala100=
ENST00000417137.6:c.327T>A	ENSP00000388489.2:p.Ala109=
ENST00000491967.2:n.490T>A
ENST00000643421.1:n.295T>A
ENST00000644036.2:c.327T>A MANE Select	ENSP00000494049.2:p.Ala109=
ENST00000644462.1:c.162T>A	ENSP00000494283.1:p.Ala54=
ENST00000644619.1:c.327T>A	ENSP00000494695.1:p.Ala109=
ENST00000646421.1:n.2183T>A
ENST00000646723.1:n.315T>A
ENST00000646911.1:n.239T>A
ENST00000647057.1:c.93+6391T>A	ENSP00000494757.1:n.93+6391T>A
ENST00000263121.11:c.327T>A	ENSP00000263121.7:p.Ala109=
ENST00000344921.10:c.300T>A	ENSP00000340883.6:p.Ala100=
ENST00000407082.3:c.327T>A	ENSP00000385226.3:p.Ala109=
ENST00000407422.7:c.300T>A	ENSP00000383984.3:p.Ala100=
ENST00000417137.5:c.327T>A	ENSP00000388489.1:p.Ala109=
ENST00000491967.1:n.53T>A
ENST00000634926.1:c.179T>A
ENST00000635578.1:c.152T>A
NM_001007468.1:c.300T>A	NP_001007469.1:p.Ala100=
NM_003073.3:c.327T>A , LRG_520t1:c.327T>A	NP_003064.2:p.Ala109=
XM_011530345.1:c.327T>A	XP_011528647.1:p.Ala109=
XM_011530346.1:c.300T>A	XP_011528648.1:p.Ala100=
NM_001007468.2:c.300T>A	NP_001007469.1:p.Ala100=
NM_001317946.1:c.300T>A	NP_001304875.1:p.Ala100=
NM_001362877.1:c.327T>A	NP_001349806.1:p.Ala109=
NM_003073.4:c.327T>A	NP_003064.2:p.Ala109=
NM_001007468.3:c.300T>A	NP_001007469.1:p.Ala100=
NM_001317946.2:c.300T>A	NP_001304875.1:p.Ala100=
NM_001362877.2:c.327T>A	NP_001349806.1:p.Ala109=
NM_003073.5:c.327T>A MANE Select	NP_003064.2:p.Ala109=