Canonical Allele Identifier: CA410935442

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2145982669
• MyVariant Identifiers: chr22:g.24145490A>T (hg19) ; chr22:g.23803303A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23803303A>T , CM000684.2:g.23803303A>T	GRCh38
NC_000022.10:g.24145490A>T , CM000684.1:g.24145490A>T	GRCh37
NC_000022.9:g.22475490A>T	NCBI36
NG_009303.1:g.21341A>T , LRG_520:g.21341A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.371A>T	ENSP00000263121.8:p.Asp124Val
ENST00000344921.11:c.536A>T	ENSP00000340883.6:p.Asp179Val
ENST00000407082.4:c.344A>T	ENSP00000385226.4:p.Asp115Val
ENST00000407422.8:c.482A>T	ENSP00000383984.3:p.Asp161Val
ENST00000417137.6:c.563A>T	ENSP00000388489.2:p.Asp188Val
ENST00000642275.1:n.757A>T
ENST00000642727.1:c.675A>T	ENSP00000495144.1:n.675A>T
ENST00000643421.1:n.477A>T
ENST00000644036.2:c.509A>T MANE Select	ENSP00000494049.2:p.Asp170Val
ENST00000644462.1:c.1227A>T	ENSP00000494283.1:n.1227A>T
ENST00000644467.1:n.1303A>T
ENST00000644619.1:c.*576A>T	ENSP00000494695.1:n.*576A>T
ENST00000646723.1:n.2710A>T
ENST00000646911.1:n.421A>T
ENST00000647057.1:c.*3A>T	ENSP00000494757.1:n.*3A>T
ENST00000263121.11:c.509A>T	ENSP00000263121.7:p.Asp170Val
ENST00000344921.10:c.536A>T	ENSP00000340883.6:p.Asp179Val
ENST00000407082.3:c.371A>T	ENSP00000385226.3:p.Asp124Val
ENST00000407422.7:c.482A>T	ENSP00000383984.3:p.Asp161Val
ENST00000417137.5:c.563A>T	ENSP00000388489.1:p.Asp188Val
ENST00000634926.1:c.250A>T
ENST00000635578.1:c.223A>T
NM_001007468.1:c.482A>T	NP_001007469.1:p.Asp161Val
NM_003073.3:c.509A>T , LRG_520t1:c.509A>T	NP_003064.2:p.Asp170Val
XM_011530345.1:c.563A>T	XP_011528647.1:p.Asp188Val
XM_011530346.1:c.536A>T	XP_011528648.1:p.Asp179Val
NM_001007468.2:c.482A>T	NP_001007469.1:p.Asp161Val
NM_001317946.1:c.536A>T	NP_001304875.1:p.Asp179Val
NM_001362877.1:c.563A>T	NP_001349806.1:p.Asp188Val
NM_003073.4:c.509A>T	NP_003064.2:p.Asp170Val
NM_001007468.3:c.482A>T	NP_001007469.1:p.Asp161Val
NM_001317946.2:c.536A>T	NP_001304875.1:p.Asp179Val
NM_001362877.2:c.563A>T	NP_001349806.1:p.Asp188Val
NM_003073.5:c.509A>T MANE Select	NP_003064.2:p.Asp170Val