Canonical Allele Identifier: CA290547278

Gene: SMARCE1

Linked Data

• dbSNP Id: rs932360713
• gnomAD v2: 17-38784913-A-G
• gnomAD v3: 17-40628661-A-G
• gnomAD v4: 17-40628661-A-G
• MyVariant Identifiers: chr17:g.38784913A>G (hg19) ; chr17:g.40628661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628661A>G , CM000679.2:g.40628661A>G	GRCh38
NC_000017.10:g.38784913A>G , CM000679.1:g.38784913A>G	GRCh37
NC_000017.9:g.36038439A>G	NCBI36
NG_032163.1:g.24191T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*922T>C	ENSP00000466608.2:n.*922T>C
ENST00000348513.12:c.*124T>C MANE Select	ENSP00000323967.6:n.*124T>C
ENST00000377808.9:c.*347T>C	ENSP00000367039.4:n.*347T>C
ENST00000400122.8:c.*347T>C	ENSP00000411607.2:n.*347T>C
ENST00000469334.6:n.1958T>C
ENST00000578112.6:c.*1157T>C	ENSP00000464501.1:n.*1157T>C
ENST00000580419.6:c.*339T>C	ENSP00000462475.2:n.*339T>C
ENST00000642576.1:n.2503T>C
ENST00000643030.1:n.1983T>C
ENST00000643255.1:c.*3424T>C	ENSP00000493957.1:n.*3424T>C
ENST00000643318.1:c.*124T>C	ENSP00000494771.1:n.*124T>C
ENST00000643378.1:n.1915T>C
ENST00000643683.1:c.*124T>C	ENSP00000496094.1:n.*124T>C
ENST00000643893.1:n.1653T>C
ENST00000644443.1:n.3248T>C
ENST00000644523.1:n.1406T>C
ENST00000644527.1:c.*124T>C	ENSP00000493974.1:n.*124T>C
ENST00000644701.1:c.*347T>C	ENSP00000496097.1:n.*347T>C
ENST00000644909.1:c.*629T>C	ENSP00000493649.1:n.*629T>C
ENST00000645152.1:n.2023T>C
ENST00000645227.1:c.*1048T>C	ENSP00000495021.1:n.*1048T>C
ENST00000646242.1:n.7272T>C
ENST00000646283.1:c.*124T>C	ENSP00000494537.1:n.*124T>C
ENST00000646401.1:n.2726T>C
ENST00000646856.1:c.*1236T>C	ENSP00000494505.1:n.*1236T>C
ENST00000647294.1:c.*1290T>C	ENSP00000494815.1:n.*1290T>C
ENST00000647508.1:c.*124T>C	ENSP00000496445.1:n.*124T>C
ENST00000647515.1:c.*891T>C	ENSP00000495857.1:n.*891T>C
ENST00000348513.10:c.*124T>C	ENSP00000323967.6:n.*124T>C
ENST00000431889.6:c.*124T>C	ENSP00000445370.1:n.*124T>C
ENST00000469334.5:n.1947T>C
ENST00000578112.5:c.*1157T>C	ENSP00000464501.1:n.*1157T>C
NM_003079.4:c.*124T>C	NP_003070.3:n.*124T>C
NM_003079.5:c.*124T>C MANE Select	NP_003070.3:n.*124T>C