Canonical Allele Identifier: CA410914529

Gene: SMARCB1

Linked Data

• gnomAD v4: 22-23834147-G-T
• MyVariant Identifiers: chr22:g.24176334G>T (hg19) ; chr22:g.23834147G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834147G>T , CM000684.2:g.23834147G>T	GRCh38
NC_000022.10:g.24176334G>T , CM000684.1:g.24176334G>T	GRCh37
NC_000022.9:g.22506334G>T	NCBI36
NG_009303.1:g.52185G>T , LRG_520:g.52185G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.987G>T	ENSP00000263121.8:p.Met329Ile
ENST00000344921.11:c.1152G>T	ENSP00000340883.6:p.Met384Ile
ENST00000407422.8:c.1098G>T	ENSP00000383984.3:p.Met366Ile
ENST00000644036.2:c.1125G>T MANE Select	ENSP00000494049.2:p.Met375Ile
ENST00000644462.1:c.1843G>T	ENSP00000494283.1:n.1843G>T
ENST00000645799.1:n.2447G>T
ENST00000646723.1:n.3471G>T
ENST00000647057.1:c.*619G>T	ENSP00000494757.1:n.*619G>T
ENST00000263121.11:c.1125G>T	ENSP00000263121.7:p.Met375Ile
ENST00000344921.10:c.1152G>T	ENSP00000340883.6:p.Met384Ile
ENST00000407082.3:c.987G>T	ENSP00000385226.3:p.Met329Ile
ENST00000407422.7:c.1098G>T	ENSP00000383984.3:p.Met366Ile
NM_001007468.1:c.1098G>T	NP_001007469.1:p.Met366Ile
NM_003073.3:c.1125G>T , LRG_520t1:c.1125G>T	NP_003064.2:p.Met375Ile
XM_011530345.1:c.1179G>T	XP_011528647.1:p.Met393Ile
XM_011530346.1:c.1152G>T	XP_011528648.1:p.Met384Ile
NM_001007468.2:c.1098G>T	NP_001007469.1:p.Met366Ile
NM_001317946.1:c.1152G>T	NP_001304875.1:p.Met384Ile
NM_001362877.1:c.1179G>T	NP_001349806.1:p.Met393Ile
NM_003073.4:c.1125G>T	NP_003064.2:p.Met375Ile
NM_001007468.3:c.1098G>T	NP_001007469.1:p.Met366Ile
NM_001317946.2:c.1152G>T	NP_001304875.1:p.Met384Ile
NM_001362877.2:c.1179G>T	NP_001349806.1:p.Met393Ile
NM_003073.5:c.1125G>T MANE Select	NP_003064.2:p.Met375Ile