Canonical Allele Identifier: CA771947585

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1426161666
• gnomAD v4: 17-40628470-T-C
• MyVariant Identifiers: chr17:g.38784722T>C (hg19) ; chr17:g.40628470T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628470T>C , CM000679.2:g.40628470T>C	GRCh38
NC_000017.10:g.38784722T>C , CM000679.1:g.38784722T>C	GRCh37
NC_000017.9:g.36038248T>C	NCBI36
NG_032163.1:g.24382A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1113A>G	ENSP00000466608.2:n.*1113A>G
ENST00000348513.12:c.*315A>G MANE Select	ENSP00000323967.6:n.*315A>G
ENST00000377808.9:c.*538A>G	ENSP00000367039.4:n.*538A>G
ENST00000400122.8:c.*538A>G	ENSP00000411607.2:n.*538A>G
ENST00000469334.6:n.2149A>G
ENST00000578112.6:c.*1348A>G	ENSP00000464501.1:n.*1348A>G
ENST00000580419.6:c.*530A>G	ENSP00000462475.2:n.*530A>G
ENST00000642576.1:n.2694A>G
ENST00000643030.1:n.2174A>G
ENST00000643255.1:c.*3615A>G	ENSP00000493957.1:n.*3615A>G
ENST00000643318.1:c.*315A>G	ENSP00000494771.1:n.*315A>G
ENST00000643378.1:n.2106A>G
ENST00000643683.1:c.*315A>G	ENSP00000496094.1:n.*315A>G
ENST00000643893.1:n.1844A>G
ENST00000644443.1:n.3439A>G
ENST00000644523.1:n.1597A>G
ENST00000644527.1:c.*315A>G	ENSP00000493974.1:n.*315A>G
ENST00000644701.1:c.*538A>G	ENSP00000496097.1:n.*538A>G
ENST00000644909.1:c.*820A>G	ENSP00000493649.1:n.*820A>G
ENST00000645152.1:n.2214A>G
ENST00000645227.1:c.*1239A>G	ENSP00000495021.1:n.*1239A>G
ENST00000646242.1:n.7463A>G
ENST00000646283.1:c.*315A>G	ENSP00000494537.1:n.*315A>G
ENST00000646401.1:n.2917A>G
ENST00000646856.1:c.*1427A>G	ENSP00000494505.1:n.*1427A>G
ENST00000647294.1:c.*1481A>G	ENSP00000494815.1:n.*1481A>G
ENST00000647508.1:c.*315A>G	ENSP00000496445.1:n.*315A>G
ENST00000647515.1:c.*1082A>G	ENSP00000495857.1:n.*1082A>G
ENST00000348513.10:c.*315A>G	ENSP00000323967.6:n.*315A>G
ENST00000431889.6:c.*315A>G	ENSP00000445370.1:n.*315A>G
ENST00000578112.5:c.*1348A>G	ENSP00000464501.1:n.*1348A>G
NM_003079.4:c.*315A>G	NP_003070.3:n.*315A>G
NM_003079.5:c.*315A>G MANE Select	NP_003070.3:n.*315A>G