Canonical Allele Identifier: CA290547150

Gene: SMARCE1

Linked Data

• dbSNP Id: rs550582424
• gnomAD v4: 17-40628377-C-T
• MyVariant Identifiers: chr17:g.38784629C>T (hg19) ; chr17:g.40628377C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628377C>T , CM000679.2:g.40628377C>T	GRCh38
NC_000017.10:g.38784629C>T , CM000679.1:g.38784629C>T	GRCh37
NC_000017.9:g.36038155C>T	NCBI36
NG_032163.1:g.24475G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1206G>A	ENSP00000466608.2:n.*1206G>A
ENST00000348513.12:c.*408G>A MANE Select	ENSP00000323967.6:n.*408G>A
ENST00000377808.9:c.*631G>A	ENSP00000367039.4:n.*631G>A
ENST00000400122.8:c.*631G>A	ENSP00000411607.2:n.*631G>A
ENST00000469334.6:n.2242G>A
ENST00000578112.6:c.*1441G>A	ENSP00000464501.1:n.*1441G>A
ENST00000580419.6:c.*623G>A	ENSP00000462475.2:n.*623G>A
ENST00000642576.1:n.2787G>A
ENST00000643030.1:n.2267G>A
ENST00000643255.1:c.*3708G>A	ENSP00000493957.1:n.*3708G>A
ENST00000643318.1:c.*408G>A	ENSP00000494771.1:n.*408G>A
ENST00000643378.1:n.2199G>A
ENST00000643683.1:c.*408G>A	ENSP00000496094.1:n.*408G>A
ENST00000643893.1:n.1937G>A
ENST00000644443.1:n.3532G>A
ENST00000644523.1:n.1690G>A
ENST00000644527.1:c.*408G>A	ENSP00000493974.1:n.*408G>A
ENST00000644701.1:c.*631G>A	ENSP00000496097.1:n.*631G>A
ENST00000644909.1:c.*913G>A	ENSP00000493649.1:n.*913G>A
ENST00000645152.1:n.2307G>A
ENST00000645227.1:c.*1332G>A	ENSP00000495021.1:n.*1332G>A
ENST00000646242.1:n.7556G>A
ENST00000646283.1:c.*408G>A	ENSP00000494537.1:n.*408G>A
ENST00000646401.1:n.3010G>A
ENST00000646856.1:c.*1520G>A	ENSP00000494505.1:n.*1520G>A
ENST00000647294.1:c.*1574G>A	ENSP00000494815.1:n.*1574G>A
ENST00000647508.1:c.*408G>A	ENSP00000496445.1:n.*408G>A
ENST00000647515.1:c.*1175G>A	ENSP00000495857.1:n.*1175G>A
ENST00000348513.10:c.*408G>A	ENSP00000323967.6:n.*408G>A
ENST00000578112.5:c.*1441G>A	ENSP00000464501.1:n.*1441G>A
NM_003079.4:c.*408G>A	NP_003070.3:n.*408G>A
NM_003079.5:c.*408G>A MANE Select	NP_003070.3:n.*408G>A