Canonical Allele Identifier: CA2259640370

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037056790

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628455A>G , CM000679.2:g.40628455A>G	GRCh38
NC_000017.10:g.38784707A>G , CM000679.1:g.38784707A>G	GRCh37
NC_000017.9:g.36038233A>G	NCBI36
NG_032163.1:g.24397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1128T>C	ENSP00000466608.2:n.*1128T>C
ENST00000348513.12:c.*330T>C MANE Select	ENSP00000323967.6:n.*330T>C
ENST00000377808.9:c.*553T>C	ENSP00000367039.4:n.*553T>C
ENST00000400122.8:c.*553T>C	ENSP00000411607.2:n.*553T>C
ENST00000469334.6:n.2164T>C
ENST00000578112.6:c.*1363T>C	ENSP00000464501.1:n.*1363T>C
ENST00000580419.6:c.*545T>C	ENSP00000462475.2:n.*545T>C
ENST00000642576.1:n.2709T>C
ENST00000643030.1:n.2189T>C
ENST00000643255.1:c.*3630T>C	ENSP00000493957.1:n.*3630T>C
ENST00000643318.1:c.*330T>C	ENSP00000494771.1:n.*330T>C
ENST00000643378.1:n.2121T>C
ENST00000643683.1:c.*330T>C	ENSP00000496094.1:n.*330T>C
ENST00000643893.1:n.1859T>C
ENST00000644443.1:n.3454T>C
ENST00000644523.1:n.1612T>C
ENST00000644527.1:c.*330T>C	ENSP00000493974.1:n.*330T>C
ENST00000644701.1:c.*553T>C	ENSP00000496097.1:n.*553T>C
ENST00000644909.1:c.*835T>C	ENSP00000493649.1:n.*835T>C
ENST00000645152.1:n.2229T>C
ENST00000645227.1:c.*1254T>C	ENSP00000495021.1:n.*1254T>C
ENST00000646242.1:n.7478T>C
ENST00000646283.1:c.*330T>C	ENSP00000494537.1:n.*330T>C
ENST00000646401.1:n.2932T>C
ENST00000646856.1:c.*1442T>C	ENSP00000494505.1:n.*1442T>C
ENST00000647294.1:c.*1496T>C	ENSP00000494815.1:n.*1496T>C
ENST00000647508.1:c.*330T>C	ENSP00000496445.1:n.*330T>C
ENST00000647515.1:c.*1097T>C	ENSP00000495857.1:n.*1097T>C
ENST00000348513.10:c.*330T>C	ENSP00000323967.6:n.*330T>C
ENST00000578112.5:c.*1363T>C	ENSP00000464501.1:n.*1363T>C
NM_003079.4:c.*330T>C	NP_003070.3:n.*330T>C
NM_003079.5:c.*330T>C MANE Select	NP_003070.3:n.*330T>C