Canonical Allele Identifier: CA410933959

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2145964259
• MyVariant Identifiers: chr22:g.24135839C>A (hg19) ; chr22:g.23793652C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23793652C>A , CM000684.2:g.23793652C>A	GRCh38
NC_000022.10:g.24135839C>A , CM000684.1:g.24135839C>A	GRCh37
NC_000022.9:g.22465839C>A	NCBI36
NG_009303.1:g.11690C>A , LRG_520:g.11690C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.326C>A	ENSP00000263121.8:p.Ala109Asp
ENST00000344921.11:c.299C>A	ENSP00000340883.6:p.Ala100Asp
ENST00000407082.4:c.299C>A	ENSP00000385226.4:p.Ala100Asp
ENST00000407422.8:c.299C>A	ENSP00000383984.3:p.Ala100Asp
ENST00000417137.6:c.326C>A	ENSP00000388489.2:p.Ala109Asp
ENST00000491967.2:n.489C>A
ENST00000643421.1:n.294C>A
ENST00000644036.2:c.326C>A MANE Select	ENSP00000494049.2:p.Ala109Asp
ENST00000644462.1:c.161C>A	ENSP00000494283.1:p.Ala54Asp
ENST00000644619.1:c.326C>A	ENSP00000494695.1:p.Ala109Asp
ENST00000646421.1:n.2182C>A
ENST00000646723.1:n.314C>A
ENST00000646911.1:n.238C>A
ENST00000647057.1:c.93+6390C>A	ENSP00000494757.1:n.93+6390C>A
ENST00000263121.11:c.326C>A	ENSP00000263121.7:p.Ala109Asp
ENST00000344921.10:c.299C>A	ENSP00000340883.6:p.Ala100Asp
ENST00000407082.3:c.326C>A	ENSP00000385226.3:p.Ala109Asp
ENST00000407422.7:c.299C>A	ENSP00000383984.3:p.Ala100Asp
ENST00000417137.5:c.326C>A	ENSP00000388489.1:p.Ala109Asp
ENST00000491967.1:n.52C>A
ENST00000634926.1:c.178C>A
ENST00000635578.1:c.151C>A
NM_001007468.1:c.299C>A	NP_001007469.1:p.Ala100Asp
NM_003073.3:c.326C>A , LRG_520t1:c.326C>A	NP_003064.2:p.Ala109Asp
XM_011530345.1:c.326C>A	XP_011528647.1:p.Ala109Asp
XM_011530346.1:c.299C>A	XP_011528648.1:p.Ala100Asp
NM_001007468.2:c.299C>A	NP_001007469.1:p.Ala100Asp
NM_001317946.1:c.299C>A	NP_001304875.1:p.Ala100Asp
NM_001362877.1:c.326C>A	NP_001349806.1:p.Ala109Asp
NM_003073.4:c.326C>A	NP_003064.2:p.Ala109Asp
NM_001007468.3:c.299C>A	NP_001007469.1:p.Ala100Asp
NM_001317946.2:c.299C>A	NP_001304875.1:p.Ala100Asp
NM_001362877.2:c.326C>A	NP_001349806.1:p.Ala109Asp
NM_003073.5:c.326C>A MANE Select	NP_003064.2:p.Ala109Asp