Canonical Allele Identifier: CA2637750198

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628705-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628705C>T , CM000679.2:g.40628705C>T	GRCh38
NC_000017.10:g.38784957C>T , CM000679.1:g.38784957C>T	GRCh37
NC_000017.9:g.36038483C>T	NCBI36
NG_032163.1:g.24147G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*878G>A	ENSP00000466608.2:n.*878G>A
ENST00000348513.12:c.*80G>A MANE Select	ENSP00000323967.6:n.*80G>A
ENST00000377808.9:c.*303G>A	ENSP00000367039.4:n.*303G>A
ENST00000400122.8:c.*303G>A	ENSP00000411607.2:n.*303G>A
ENST00000469334.6:n.1914G>A
ENST00000578112.6:c.*1113G>A	ENSP00000464501.1:n.*1113G>A
ENST00000580419.6:c.*295G>A	ENSP00000462475.2:n.*295G>A
ENST00000642576.1:n.2459G>A
ENST00000643030.1:n.1939G>A
ENST00000643255.1:c.*3380G>A	ENSP00000493957.1:n.*3380G>A
ENST00000643318.1:c.*80G>A	ENSP00000494771.1:n.*80G>A
ENST00000643378.1:n.1871G>A
ENST00000643683.1:c.*80G>A	ENSP00000496094.1:n.*80G>A
ENST00000643893.1:n.1609G>A
ENST00000644443.1:n.3204G>A
ENST00000644523.1:n.1362G>A
ENST00000644527.1:c.*80G>A	ENSP00000493974.1:n.*80G>A
ENST00000644701.1:c.*303G>A	ENSP00000496097.1:n.*303G>A
ENST00000644909.1:c.*585G>A	ENSP00000493649.1:n.*585G>A
ENST00000645152.1:n.1979G>A
ENST00000645227.1:c.*1004G>A	ENSP00000495021.1:n.*1004G>A
ENST00000646242.1:n.7228G>A
ENST00000646283.1:c.*80G>A	ENSP00000494537.1:n.*80G>A
ENST00000646401.1:n.2682G>A
ENST00000646856.1:c.*1192G>A	ENSP00000494505.1:n.*1192G>A
ENST00000647294.1:c.*1246G>A	ENSP00000494815.1:n.*1246G>A
ENST00000647508.1:c.*80G>A	ENSP00000496445.1:n.*80G>A
ENST00000647515.1:c.*847G>A	ENSP00000495857.1:n.*847G>A
ENST00000348513.10:c.*80G>A	ENSP00000323967.6:n.*80G>A
ENST00000431889.6:c.*80G>A	ENSP00000445370.1:n.*80G>A
ENST00000469334.5:n.1903G>A
ENST00000578112.5:c.*1113G>A	ENSP00000464501.1:n.*1113G>A
NM_003079.4:c.*80G>A	NP_003070.3:n.*80G>A
NM_003079.5:c.*80G>A MANE Select	NP_003070.3:n.*80G>A