Canonical Allele Identifier: CA410914622

Gene: SMARCB1

Linked Data

• ClinVar Variation Id: 1000534
• ClinVar RCV Id: RCV001296679
• dbSNP Id: rs2030838981
• COSMIC: COSM5991515
• MyVariant Identifiers: chr22:g.24176341C>T (hg19) ; chr22:g.23834154C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834154C>T , CM000684.2:g.23834154C>T	GRCh38
NC_000022.10:g.24176341C>T , CM000684.1:g.24176341C>T	GRCh37
NC_000022.9:g.22506341C>T	NCBI36
NG_009303.1:g.52192C>T , LRG_520:g.52192C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000263121.12:c.994C>T	ENSP00000263121.8:p.Leu332Phe
ENST00000344921.11:c.1159C>T	ENSP00000340883.6:p.Leu387Phe
ENST00000407422.8:c.1105C>T	ENSP00000383984.3:p.Leu369Phe
ENST00000644036.2:c.1132C>T MANE Select	ENSP00000494049.2:p.Leu378Phe
ENST00000644462.1:c.1850C>T	ENSP00000494283.1:n.1850C>T
ENST00000645799.1:n.2454C>T
ENST00000646723.1:n.3478C>T
ENST00000647057.1:c.*626C>T	ENSP00000494757.1:n.*626C>T
ENST00000263121.11:c.1132C>T	ENSP00000263121.7:p.Leu378Phe
ENST00000344921.10:c.1159C>T	ENSP00000340883.6:p.Leu387Phe
ENST00000407082.3:c.994C>T	ENSP00000385226.3:p.Leu332Phe
ENST00000407422.7:c.1105C>T	ENSP00000383984.3:p.Leu369Phe
NM_001007468.1:c.1105C>T	NP_001007469.1:p.Leu369Phe
NM_003073.3:c.1132C>T , LRG_520t1:c.1132C>T	NP_003064.2:p.Leu378Phe
XM_011530345.1:c.1186C>T	XP_011528647.1:p.Leu396Phe
XM_011530346.1:c.1159C>T	XP_011528648.1:p.Leu387Phe
NM_001007468.2:c.1105C>T	NP_001007469.1:p.Leu369Phe
NM_001317946.1:c.1159C>T	NP_001304875.1:p.Leu387Phe
NM_001362877.1:c.1186C>T	NP_001349806.1:p.Leu396Phe
NM_003073.4:c.1132C>T	NP_003064.2:p.Leu378Phe
NM_001007468.3:c.1105C>T	NP_001007469.1:p.Leu369Phe
NM_001317946.2:c.1159C>T	NP_001304875.1:p.Leu387Phe
NM_001362877.2:c.1186C>T	NP_001349806.1:p.Leu396Phe
NM_003073.5:c.1132C>T MANE Select	NP_003064.2:p.Leu378Phe