Canonical Allele Identifier: CA983694692

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037057645
• gnomAD v3: 17-40628581-C-G
• gnomAD v4: 17-40628581-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628581C>G , CM000679.2:g.40628581C>G	GRCh38
NC_000017.10:g.38784833C>G , CM000679.1:g.38784833C>G	GRCh37
NC_000017.9:g.36038359C>G	NCBI36
NG_032163.1:g.24271G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1002G>C	ENSP00000466608.2:n.*1002G>C
ENST00000348513.12:c.*204G>C MANE Select	ENSP00000323967.6:n.*204G>C
ENST00000377808.9:c.*427G>C	ENSP00000367039.4:n.*427G>C
ENST00000400122.8:c.*427G>C	ENSP00000411607.2:n.*427G>C
ENST00000469334.6:n.2038G>C
ENST00000578112.6:c.*1237G>C	ENSP00000464501.1:n.*1237G>C
ENST00000580419.6:c.*419G>C	ENSP00000462475.2:n.*419G>C
ENST00000642576.1:n.2583G>C
ENST00000643030.1:n.2063G>C
ENST00000643255.1:c.*3504G>C	ENSP00000493957.1:n.*3504G>C
ENST00000643318.1:c.*204G>C	ENSP00000494771.1:n.*204G>C
ENST00000643378.1:n.1995G>C
ENST00000643683.1:c.*204G>C	ENSP00000496094.1:n.*204G>C
ENST00000643893.1:n.1733G>C
ENST00000644443.1:n.3328G>C
ENST00000644523.1:n.1486G>C
ENST00000644527.1:c.*204G>C	ENSP00000493974.1:n.*204G>C
ENST00000644701.1:c.*427G>C	ENSP00000496097.1:n.*427G>C
ENST00000644909.1:c.*709G>C	ENSP00000493649.1:n.*709G>C
ENST00000645152.1:n.2103G>C
ENST00000645227.1:c.*1128G>C	ENSP00000495021.1:n.*1128G>C
ENST00000646242.1:n.7352G>C
ENST00000646283.1:c.*204G>C	ENSP00000494537.1:n.*204G>C
ENST00000646401.1:n.2806G>C
ENST00000646856.1:c.*1316G>C	ENSP00000494505.1:n.*1316G>C
ENST00000647294.1:c.*1370G>C	ENSP00000494815.1:n.*1370G>C
ENST00000647508.1:c.*204G>C	ENSP00000496445.1:n.*204G>C
ENST00000647515.1:c.*971G>C	ENSP00000495857.1:n.*971G>C
ENST00000348513.10:c.*204G>C	ENSP00000323967.6:n.*204G>C
ENST00000431889.6:c.*204G>C	ENSP00000445370.1:n.*204G>C
ENST00000469334.5:n.2027G>C
ENST00000578112.5:c.*1237G>C	ENSP00000464501.1:n.*1237G>C
NM_003079.4:c.*204G>C	NP_003070.3:n.*204G>C
NM_003079.5:c.*204G>C MANE Select	NP_003070.3:n.*204G>C