Canonical Allele Identifier: CA2738005458

Gene: SMARCB1

Linked Data

• dbSNP Id: rs2146046003

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.23834241A>T , CM000684.2:g.23834241A>T	GRCh38
NC_000022.10:g.24176428A>T , CM000684.1:g.24176428A>T	GRCh37
NC_000022.9:g.22506428A>T	NCBI36
NG_009303.1:g.52279A>T , LRG_520:g.52279A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000263121.12:c.*61A>T	ENSP00000263121.8:n.*61A>T
ENST00000344921.11:c.*61A>T	ENSP00000340883.6:n.*61A>T
ENST00000407422.8:c.*61A>T	ENSP00000383984.3:n.*61A>T
ENST00000644036.2:c.*61A>T MANE Select	ENSP00000494049.2:n.*61A>T
ENST00000644462.1:c.1937A>T	ENSP00000494283.1:n.1937A>T
ENST00000645799.1:n.2541A>T
ENST00000646723.1:n.3565A>T
ENST00000647057.1:c.*713A>T	ENSP00000494757.1:n.*713A>T
ENST00000263121.11:c.*61A>T	ENSP00000263121.7:n.*61A>T
ENST00000344921.10:c.*61A>T	ENSP00000340883.6:n.*61A>T
ENST00000407422.7:c.*61A>T	ENSP00000383984.3:n.*61A>T
NM_001007468.1:c.*61A>T	NP_001007469.1:n.*61A>T
NM_003073.3:c.*61A>T , LRG_520t1:c.*61A>T	NP_003064.2:n.*61A>T
XM_011530345.1:c.*61A>T	XP_011528647.1:n.*61A>T
XM_011530346.1:c.*61A>T	XP_011528648.1:n.*61A>T
NM_001007468.2:c.*61A>T	NP_001007469.1:n.*61A>T
NM_001317946.1:c.*61A>T	NP_001304875.1:n.*61A>T
NM_001362877.1:c.*61A>T	NP_001349806.1:n.*61A>T
NM_003073.4:c.*61A>T	NP_003064.2:n.*61A>T
NM_001007468.3:c.*61A>T	NP_001007469.1:n.*61A>T
NM_001317946.2:c.*61A>T	NP_001304875.1:n.*61A>T
NM_001362877.2:c.*61A>T	NP_001349806.1:n.*61A>T
NM_003073.5:c.*61A>T MANE Select	NP_003064.2:n.*61A>T