Canonical Allele Identifier: CA626211879

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1465618297
• gnomAD v2: 17-38784993-T-C
• MyVariant Identifiers: chr17:g.38784993T>C (hg19) ; chr17:g.40628741T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628741T>C , CM000679.2:g.40628741T>C	GRCh38
NC_000017.10:g.38784993T>C , CM000679.1:g.38784993T>C	GRCh37
NC_000017.9:g.36038519T>C	NCBI36
NG_032163.1:g.24111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*842A>G	ENSP00000466608.2:n.*842A>G
ENST00000348513.12:c.*44A>G MANE Select	ENSP00000323967.6:n.*44A>G
ENST00000377808.9:c.*267A>G	ENSP00000367039.4:n.*267A>G
ENST00000400122.8:c.*267A>G	ENSP00000411607.2:n.*267A>G
ENST00000469334.6:n.1878A>G
ENST00000578112.6:c.*1077A>G	ENSP00000464501.1:n.*1077A>G
ENST00000580419.6:c.*259A>G	ENSP00000462475.2:n.*259A>G
ENST00000642576.1:n.2423A>G
ENST00000643030.1:n.1903A>G
ENST00000643255.1:c.*3344A>G	ENSP00000493957.1:n.*3344A>G
ENST00000643318.1:c.*44A>G	ENSP00000494771.1:n.*44A>G
ENST00000643378.1:n.1835A>G
ENST00000643683.1:c.*44A>G	ENSP00000496094.1:n.*44A>G
ENST00000643893.1:n.1573A>G
ENST00000644443.1:n.3168A>G
ENST00000644523.1:n.1326A>G
ENST00000644527.1:c.*44A>G	ENSP00000493974.1:n.*44A>G
ENST00000644701.1:c.*267A>G	ENSP00000496097.1:n.*267A>G
ENST00000644909.1:c.*549A>G	ENSP00000493649.1:n.*549A>G
ENST00000645152.1:n.1943A>G
ENST00000645227.1:c.*968A>G	ENSP00000495021.1:n.*968A>G
ENST00000646242.1:n.7192A>G
ENST00000646283.1:c.*44A>G	ENSP00000494537.1:n.*44A>G
ENST00000646401.1:n.2646A>G
ENST00000646856.1:c.*1156A>G	ENSP00000494505.1:n.*1156A>G
ENST00000647294.1:c.*1210A>G	ENSP00000494815.1:n.*1210A>G
ENST00000647508.1:c.*44A>G	ENSP00000496445.1:n.*44A>G
ENST00000647515.1:c.*811A>G	ENSP00000495857.1:n.*811A>G
ENST00000348513.10:c.*44A>G	ENSP00000323967.6:n.*44A>G
ENST00000431889.6:c.*44A>G	ENSP00000445370.1:n.*44A>G
ENST00000469334.5:n.1867A>G
ENST00000578112.5:c.*1077A>G	ENSP00000464501.1:n.*1077A>G
NM_003079.4:c.*44A>G	NP_003070.3:n.*44A>G
NM_003079.5:c.*44A>G MANE Select	NP_003070.3:n.*44A>G