Canonical Allele Identifier: CA410933979
Gene: SMARCB1 HGNC NCBI

Linked Data

dbSNP Id: rs1601391157

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.23793655T>G , CM000684.2:g.23793655T>G GRCh38
NC_000022.10:g.24135842T>G , CM000684.1:g.24135842T>G GRCh37
NC_000022.9:g.22465842T>G NCBI36
NG_009303.1:g.11693T>G , LRG_520:g.11693T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000263121.12:c.329T>G ENSP00000263121.8:p.Val110Gly
ENST00000344921.11:c.302T>G ENSP00000340883.6:p.Val101Gly
ENST00000407082.4:c.302T>G ENSP00000385226.4:p.Val101Gly
ENST00000407422.8:c.302T>G ENSP00000383984.3:p.Val101Gly
ENST00000417137.6:c.329T>G ENSP00000388489.2:p.Val110Gly
ENST00000491967.2:n.492T>G
ENST00000643421.1:n.297T>G
ENST00000644036.2:c.329T>G MANE Select ENSP00000494049.2:p.Val110Gly
ENST00000644462.1:c.164T>G ENSP00000494283.1:p.Val55Gly
ENST00000644619.1:c.329T>G ENSP00000494695.1:p.Val110Gly
ENST00000646421.1:n.2185T>G
ENST00000646723.1:n.317T>G
ENST00000646911.1:n.241T>G
ENST00000647057.1:c.93+6393T>G ENSP00000494757.1:n.93+6393T>G
ENST00000263121.11:c.329T>G ENSP00000263121.7:p.Val110Gly
ENST00000344921.10:c.302T>G ENSP00000340883.6:p.Val101Gly
ENST00000407082.3:c.329T>G ENSP00000385226.3:p.Val110Gly
ENST00000407422.7:c.302T>G ENSP00000383984.3:p.Val101Gly
ENST00000417137.5:c.329T>G ENSP00000388489.1:p.Val110Gly
ENST00000491967.1:n.55T>G
ENST00000634926.1:c.181T>G
ENST00000635578.1:c.154T>G
NM_001007468.1:c.302T>G NP_001007469.1:p.Val101Gly
NM_003073.3:c.329T>G , LRG_520t1:c.329T>G NP_003064.2:p.Val110Gly
XM_011530345.1:c.329T>G XP_011528647.1:p.Val110Gly
XM_011530346.1:c.302T>G XP_011528648.1:p.Val101Gly
NM_001007468.2:c.302T>G NP_001007469.1:p.Val101Gly
NM_001317946.1:c.302T>G NP_001304875.1:p.Val101Gly
NM_001362877.1:c.329T>G NP_001349806.1:p.Val110Gly
NM_003073.4:c.329T>G NP_003064.2:p.Val110Gly
NM_001007468.3:c.302T>G NP_001007469.1:p.Val101Gly
NM_001317946.2:c.302T>G NP_001304875.1:p.Val101Gly
NM_001362877.2:c.329T>G NP_001349806.1:p.Val110Gly
NM_003073.5:c.329T>G MANE Select NP_003064.2:p.Val110Gly