Canonical Allele Identifier: CA771947618

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1359890261
• gnomAD v2: 17-38784872-G-C
• gnomAD v3: 17-40628620-G-C
• gnomAD v4: 17-40628620-G-C
• MyVariant Identifiers: chr17:g.38784872G>C (hg19) ; chr17:g.40628620G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628620G>C , CM000679.2:g.40628620G>C	GRCh38
NC_000017.10:g.38784872G>C , CM000679.1:g.38784872G>C	GRCh37
NC_000017.9:g.36038398G>C	NCBI36
NG_032163.1:g.24232C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*963C>G	ENSP00000466608.2:n.*963C>G
ENST00000348513.12:c.*165C>G MANE Select	ENSP00000323967.6:n.*165C>G
ENST00000377808.9:c.*388C>G	ENSP00000367039.4:n.*388C>G
ENST00000400122.8:c.*388C>G	ENSP00000411607.2:n.*388C>G
ENST00000469334.6:n.1999C>G
ENST00000578112.6:c.*1198C>G	ENSP00000464501.1:n.*1198C>G
ENST00000580419.6:c.*380C>G	ENSP00000462475.2:n.*380C>G
ENST00000642576.1:n.2544C>G
ENST00000643030.1:n.2024C>G
ENST00000643255.1:c.*3465C>G	ENSP00000493957.1:n.*3465C>G
ENST00000643318.1:c.*165C>G	ENSP00000494771.1:n.*165C>G
ENST00000643378.1:n.1956C>G
ENST00000643683.1:c.*165C>G	ENSP00000496094.1:n.*165C>G
ENST00000643893.1:n.1694C>G
ENST00000644443.1:n.3289C>G
ENST00000644523.1:n.1447C>G
ENST00000644527.1:c.*165C>G	ENSP00000493974.1:n.*165C>G
ENST00000644701.1:c.*388C>G	ENSP00000496097.1:n.*388C>G
ENST00000644909.1:c.*670C>G	ENSP00000493649.1:n.*670C>G
ENST00000645152.1:n.2064C>G
ENST00000645227.1:c.*1089C>G	ENSP00000495021.1:n.*1089C>G
ENST00000646242.1:n.7313C>G
ENST00000646283.1:c.*165C>G	ENSP00000494537.1:n.*165C>G
ENST00000646401.1:n.2767C>G
ENST00000646856.1:c.*1277C>G	ENSP00000494505.1:n.*1277C>G
ENST00000647294.1:c.*1331C>G	ENSP00000494815.1:n.*1331C>G
ENST00000647508.1:c.*165C>G	ENSP00000496445.1:n.*165C>G
ENST00000647515.1:c.*932C>G	ENSP00000495857.1:n.*932C>G
ENST00000348513.10:c.*165C>G	ENSP00000323967.6:n.*165C>G
ENST00000431889.6:c.*165C>G	ENSP00000445370.1:n.*165C>G
ENST00000469334.5:n.1988C>G
ENST00000578112.5:c.*1198C>G	ENSP00000464501.1:n.*1198C>G
NM_003079.4:c.*165C>G	NP_003070.3:n.*165C>G
NM_003079.5:c.*165C>G MANE Select	NP_003070.3:n.*165C>G