Canonical Allele Identifier: CA983694685

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1597741013
• gnomAD v3: 17-40628448-C-A
• gnomAD v4: 17-40628448-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628448C>A , CM000679.2:g.40628448C>A	GRCh38
NC_000017.10:g.38784700C>A , CM000679.1:g.38784700C>A	GRCh37
NC_000017.9:g.36038226C>A	NCBI36
NG_032163.1:g.24404G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1135G>T	ENSP00000466608.2:n.*1135G>T
ENST00000348513.12:c.*337G>T MANE Select	ENSP00000323967.6:n.*337G>T
ENST00000377808.9:c.*560G>T	ENSP00000367039.4:n.*560G>T
ENST00000400122.8:c.*560G>T	ENSP00000411607.2:n.*560G>T
ENST00000469334.6:n.2171G>T
ENST00000578112.6:c.*1370G>T	ENSP00000464501.1:n.*1370G>T
ENST00000580419.6:c.*552G>T	ENSP00000462475.2:n.*552G>T
ENST00000642576.1:n.2716G>T
ENST00000643030.1:n.2196G>T
ENST00000643255.1:c.*3637G>T	ENSP00000493957.1:n.*3637G>T
ENST00000643318.1:c.*337G>T	ENSP00000494771.1:n.*337G>T
ENST00000643378.1:n.2128G>T
ENST00000643683.1:c.*337G>T	ENSP00000496094.1:n.*337G>T
ENST00000643893.1:n.1866G>T
ENST00000644443.1:n.3461G>T
ENST00000644523.1:n.1619G>T
ENST00000644527.1:c.*337G>T	ENSP00000493974.1:n.*337G>T
ENST00000644701.1:c.*560G>T	ENSP00000496097.1:n.*560G>T
ENST00000644909.1:c.*842G>T	ENSP00000493649.1:n.*842G>T
ENST00000645152.1:n.2236G>T
ENST00000645227.1:c.*1261G>T	ENSP00000495021.1:n.*1261G>T
ENST00000646242.1:n.7485G>T
ENST00000646283.1:c.*337G>T	ENSP00000494537.1:n.*337G>T
ENST00000646401.1:n.2939G>T
ENST00000646856.1:c.*1449G>T	ENSP00000494505.1:n.*1449G>T
ENST00000647294.1:c.*1503G>T	ENSP00000494815.1:n.*1503G>T
ENST00000647508.1:c.*337G>T	ENSP00000496445.1:n.*337G>T
ENST00000647515.1:c.*1104G>T	ENSP00000495857.1:n.*1104G>T
ENST00000348513.10:c.*337G>T	ENSP00000323967.6:n.*337G>T
ENST00000578112.5:c.*1370G>T	ENSP00000464501.1:n.*1370G>T
NM_003079.4:c.*337G>T	NP_003070.3:n.*337G>T
NM_003079.5:c.*337G>T MANE Select	NP_003070.3:n.*337G>T