Canonical Allele Identifier: CA2530493468

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628440-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628440G>T , CM000679.2:g.40628440G>T	GRCh38
NC_000017.10:g.38784692G>T , CM000679.1:g.38784692G>T	GRCh37
NC_000017.9:g.36038218G>T	NCBI36
NG_032163.1:g.24412C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1143C>A	ENSP00000466608.2:n.*1143C>A
ENST00000348513.12:c.*345C>A MANE Select	ENSP00000323967.6:n.*345C>A
ENST00000377808.9:c.*568C>A	ENSP00000367039.4:n.*568C>A
ENST00000400122.8:c.*568C>A	ENSP00000411607.2:n.*568C>A
ENST00000469334.6:n.2179C>A
ENST00000578112.6:c.*1378C>A	ENSP00000464501.1:n.*1378C>A
ENST00000580419.6:c.*560C>A	ENSP00000462475.2:n.*560C>A
ENST00000642576.1:n.2724C>A
ENST00000643030.1:n.2204C>A
ENST00000643255.1:c.*3645C>A	ENSP00000493957.1:n.*3645C>A
ENST00000643318.1:c.*345C>A	ENSP00000494771.1:n.*345C>A
ENST00000643378.1:n.2136C>A
ENST00000643683.1:c.*345C>A	ENSP00000496094.1:n.*345C>A
ENST00000643893.1:n.1874C>A
ENST00000644443.1:n.3469C>A
ENST00000644523.1:n.1627C>A
ENST00000644527.1:c.*345C>A	ENSP00000493974.1:n.*345C>A
ENST00000644701.1:c.*568C>A	ENSP00000496097.1:n.*568C>A
ENST00000644909.1:c.*850C>A	ENSP00000493649.1:n.*850C>A
ENST00000645152.1:n.2244C>A
ENST00000645227.1:c.*1269C>A	ENSP00000495021.1:n.*1269C>A
ENST00000646242.1:n.7493C>A
ENST00000646283.1:c.*345C>A	ENSP00000494537.1:n.*345C>A
ENST00000646401.1:n.2947C>A
ENST00000646856.1:c.*1457C>A	ENSP00000494505.1:n.*1457C>A
ENST00000647294.1:c.*1511C>A	ENSP00000494815.1:n.*1511C>A
ENST00000647508.1:c.*345C>A	ENSP00000496445.1:n.*345C>A
ENST00000647515.1:c.*1112C>A	ENSP00000495857.1:n.*1112C>A
ENST00000348513.10:c.*345C>A	ENSP00000323967.6:n.*345C>A
ENST00000578112.5:c.*1378C>A	ENSP00000464501.1:n.*1378C>A
NM_003079.4:c.*345C>A	NP_003070.3:n.*345C>A
NM_003079.5:c.*345C>A MANE Select	NP_003070.3:n.*345C>A