Canonical Allele Identifier: CA2809468871

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628382G>A , CM000679.2:g.40628382G>A	GRCh38
NC_000017.10:g.38784634G>A , CM000679.1:g.38784634G>A	GRCh37
NC_000017.9:g.36038160G>A	NCBI36
NG_032163.1:g.24470C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1201C>T	ENSP00000466608.2:n.*1201C>T
ENST00000348513.12:c.*403C>T MANE Select	ENSP00000323967.6:n.*403C>T
ENST00000377808.9:c.*626C>T	ENSP00000367039.4:n.*626C>T
ENST00000400122.8:c.*626C>T	ENSP00000411607.2:n.*626C>T
ENST00000469334.6:n.2237C>T
ENST00000578112.6:c.*1436C>T	ENSP00000464501.1:n.*1436C>T
ENST00000580419.6:c.*618C>T	ENSP00000462475.2:n.*618C>T
ENST00000642576.1:n.2782C>T
ENST00000643030.1:n.2262C>T
ENST00000643255.1:c.*3703C>T	ENSP00000493957.1:n.*3703C>T
ENST00000643318.1:c.*403C>T	ENSP00000494771.1:n.*403C>T
ENST00000643378.1:n.2194C>T
ENST00000643683.1:c.*403C>T	ENSP00000496094.1:n.*403C>T
ENST00000643893.1:n.1932C>T
ENST00000644443.1:n.3527C>T
ENST00000644523.1:n.1685C>T
ENST00000644527.1:c.*403C>T	ENSP00000493974.1:n.*403C>T
ENST00000644701.1:c.*626C>T	ENSP00000496097.1:n.*626C>T
ENST00000644909.1:c.*908C>T	ENSP00000493649.1:n.*908C>T
ENST00000645152.1:n.2302C>T
ENST00000645227.1:c.*1327C>T	ENSP00000495021.1:n.*1327C>T
ENST00000646242.1:n.7551C>T
ENST00000646283.1:c.*403C>T	ENSP00000494537.1:n.*403C>T
ENST00000646401.1:n.3005C>T
ENST00000646856.1:c.*1515C>T	ENSP00000494505.1:n.*1515C>T
ENST00000647294.1:c.*1569C>T	ENSP00000494815.1:n.*1569C>T
ENST00000647508.1:c.*403C>T	ENSP00000496445.1:n.*403C>T
ENST00000647515.1:c.*1170C>T	ENSP00000495857.1:n.*1170C>T
ENST00000348513.10:c.*403C>T	ENSP00000323967.6:n.*403C>T
ENST00000578112.5:c.*1436C>T	ENSP00000464501.1:n.*1436C>T
NM_003079.4:c.*403C>T	NP_003070.3:n.*403C>T
NM_003079.5:c.*403C>T MANE Select	NP_003070.3:n.*403C>T