Canonical Allele Identifier: CA410914508

Gene: SMARCB1

Linked Data

• MyVariant Identifiers: chr22:g.24176333T>G (hg19) ; chr22:g.23834146T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834146T>G , CM000684.2:g.23834146T>G	GRCh38
NC_000022.10:g.24176333T>G , CM000684.1:g.24176333T>G	GRCh37
NC_000022.9:g.22506333T>G	NCBI36
NG_009303.1:g.52184T>G , LRG_520:g.52184T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.986T>G	ENSP00000263121.8:p.Met329Arg
ENST00000344921.11:c.1151T>G	ENSP00000340883.6:p.Met384Arg
ENST00000407422.8:c.1097T>G	ENSP00000383984.3:p.Met366Arg
ENST00000644036.2:c.1124T>G MANE Select	ENSP00000494049.2:p.Met375Arg
ENST00000644462.1:c.1842T>G	ENSP00000494283.1:n.1842T>G
ENST00000645799.1:n.2446T>G
ENST00000646723.1:n.3470T>G
ENST00000647057.1:c.*618T>G	ENSP00000494757.1:n.*618T>G
ENST00000263121.11:c.1124T>G	ENSP00000263121.7:p.Met375Arg
ENST00000344921.10:c.1151T>G	ENSP00000340883.6:p.Met384Arg
ENST00000407082.3:c.986T>G	ENSP00000385226.3:p.Met329Arg
ENST00000407422.7:c.1097T>G	ENSP00000383984.3:p.Met366Arg
NM_001007468.1:c.1097T>G	NP_001007469.1:p.Met366Arg
NM_003073.3:c.1124T>G , LRG_520t1:c.1124T>G	NP_003064.2:p.Met375Arg
XM_011530345.1:c.1178T>G	XP_011528647.1:p.Met393Arg
XM_011530346.1:c.1151T>G	XP_011528648.1:p.Met384Arg
NM_001007468.2:c.1097T>G	NP_001007469.1:p.Met366Arg
NM_001317946.1:c.1151T>G	NP_001304875.1:p.Met384Arg
NM_001362877.1:c.1178T>G	NP_001349806.1:p.Met393Arg
NM_003073.4:c.1124T>G	NP_003064.2:p.Met375Arg
NM_001007468.3:c.1097T>G	NP_001007469.1:p.Met366Arg
NM_001317946.2:c.1151T>G	NP_001304875.1:p.Met384Arg
NM_001362877.2:c.1178T>G	NP_001349806.1:p.Met393Arg
NM_003073.5:c.1124T>G MANE Select	NP_003064.2:p.Met375Arg