Canonical Allele Identifier: CA399364069

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40631590-A-G
• MyVariant Identifiers: chr17:g.38787842A>G (hg19) ; chr17:g.40631590A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631590A>G , CM000679.2:g.40631590A>G	GRCh38
NC_000017.10:g.38787842A>G , CM000679.1:g.38787842A>G	GRCh37
NC_000017.9:g.36041368A>G	NCBI36
NG_032163.1:g.21262T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.816+2T>C	ENSP00000466608.2:n.816+2T>C
ENST00000348513.12:c.816+2T>C MANE Select	ENSP00000323967.6:n.816+2T>C
ENST00000377808.9:c.711+2T>C	ENSP00000367039.4:n.711+2T>C
ENST00000400122.8:c.606+2T>C	ENSP00000411607.2:n.606+2T>C
ENST00000447024.6:c.816+2T>C	ENSP00000392958.2:n.816+2T>C
ENST00000469334.6:n.1414+2T>C
ENST00000478349.7:c.768+2T>C	ENSP00000463216.2:n.768+2T>C
ENST00000578044.6:c.606+2T>C	ENSP00000464511.1:n.606+2T>C
ENST00000578112.6:c.*613+2T>C	ENSP00000464501.1:n.*613+2T>C
ENST00000580419.6:c.711+2T>C	ENSP00000462475.2:n.711+2T>C
ENST00000580654.6:c.762+2T>C	ENSP00000464061.2:n.762+2T>C
ENST00000642459.1:c.606+2T>C	ENSP00000496546.1:n.606+2T>C
ENST00000642576.1:n.1294T>C
ENST00000643030.1:n.774T>C
ENST00000643255.1:c.*2880+2T>C	ENSP00000493957.1:n.*2880+2T>C
ENST00000643318.1:c.606+2T>C	ENSP00000494771.1:n.606+2T>C
ENST00000643378.1:n.1371+2T>C
ENST00000643580.1:n.170+2T>C
ENST00000643683.1:c.816+2T>C	ENSP00000496094.1:n.816+2T>C
ENST00000643893.1:n.1109+2T>C
ENST00000644443.1:n.2039T>C
ENST00000644523.1:n.862+2T>C
ENST00000644527.1:c.606+2T>C	ENSP00000493974.1:n.606+2T>C
ENST00000644701.1:c.816+2T>C	ENSP00000496097.1:n.816+2T>C
ENST00000644909.1:c.*85+2T>C	ENSP00000493649.1:n.*85+2T>C
ENST00000645104.1:c.711+2T>C	ENSP00000496311.1:n.711+2T>C
ENST00000645152.1:n.814T>C
ENST00000645227.1:c.*425+2T>C	ENSP00000495021.1:n.*425+2T>C
ENST00000646242.1:n.5008+2T>C
ENST00000646283.1:c.624+2T>C	ENSP00000494537.1:n.624+2T>C
ENST00000646401.1:n.1438T>C
ENST00000646448.1:n.1425T>C
ENST00000646482.1:c.816+2T>C	ENSP00000496661.1:n.816+2T>C
ENST00000646856.1:c.*613+2T>C	ENSP00000494505.1:n.*613+2T>C
ENST00000647294.1:c.*746+2T>C	ENSP00000494815.1:n.*746+2T>C
ENST00000647508.1:c.711+2T>C	ENSP00000496445.1:n.711+2T>C
ENST00000647515.1:c.606+2T>C	ENSP00000495857.1:n.606+2T>C
ENST00000264640.8:c.256+2T>C
ENST00000348513.10:c.816+2T>C	ENSP00000323967.6:n.816+2T>C
ENST00000377808.8:c.711+2T>C	ENSP00000367039.4:n.711+2T>C
ENST00000400122.7:c.606+2T>C	ENSP00000411607.2:n.606+2T>C
ENST00000431889.6:c.762+2T>C	ENSP00000445370.1:n.762+2T>C
ENST00000447024.5:c.198+2T>C	ENSP00000392958.1:n.198+2T>C
ENST00000469334.5:n.1403+2T>C
ENST00000476049.1:c.*1164+2T>C	ENSP00000463483.1:n.*1164+2T>C
ENST00000478349.6:c.768+2T>C	ENSP00000463216.1:n.768+2T>C
ENST00000578044.5:c.606+2T>C	ENSP00000464511.1:n.606+2T>C
ENST00000578112.5:c.*613+2T>C	ENSP00000464501.1:n.*613+2T>C
ENST00000580419.5:c.711+2T>C	ENSP00000462475.1:n.711+2T>C
NM_003079.4:c.816+2T>C	NP_003070.3:n.816+2T>C
NM_003079.5:c.816+2T>C MANE Select	NP_003070.3:n.816+2T>C