Canonical Allele Identifier: CA2637750231

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628771-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628771A>G , CM000679.2:g.40628771A>G	GRCh38
NC_000017.10:g.38785023A>G , CM000679.1:g.38785023A>G	GRCh37
NC_000017.9:g.36038549A>G	NCBI36
NG_032163.1:g.24081T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*812T>C	ENSP00000466608.2:n.*812T>C
ENST00000348513.12:c.*14T>C MANE Select	ENSP00000323967.6:n.*14T>C
ENST00000377808.9:c.*237T>C	ENSP00000367039.4:n.*237T>C
ENST00000400122.8:c.*237T>C	ENSP00000411607.2:n.*237T>C
ENST00000469334.6:n.1848T>C
ENST00000578112.6:c.*1047T>C	ENSP00000464501.1:n.*1047T>C
ENST00000580419.6:c.*229T>C	ENSP00000462475.2:n.*229T>C
ENST00000642576.1:n.2393T>C
ENST00000643030.1:n.1873T>C
ENST00000643255.1:c.*3314T>C	ENSP00000493957.1:n.*3314T>C
ENST00000643318.1:c.*14T>C	ENSP00000494771.1:n.*14T>C
ENST00000643378.1:n.1805T>C
ENST00000643683.1:c.*14T>C	ENSP00000496094.1:n.*14T>C
ENST00000643893.1:n.1543T>C
ENST00000644443.1:n.3138T>C
ENST00000644523.1:n.1296T>C
ENST00000644527.1:c.*14T>C	ENSP00000493974.1:n.*14T>C
ENST00000644701.1:c.*237T>C	ENSP00000496097.1:n.*237T>C
ENST00000644909.1:c.*519T>C	ENSP00000493649.1:n.*519T>C
ENST00000645152.1:n.1913T>C
ENST00000645227.1:c.*938T>C	ENSP00000495021.1:n.*938T>C
ENST00000646242.1:n.7162T>C
ENST00000646283.1:c.*14T>C	ENSP00000494537.1:n.*14T>C
ENST00000646401.1:n.2616T>C
ENST00000646856.1:c.*1126T>C	ENSP00000494505.1:n.*1126T>C
ENST00000647294.1:c.*1180T>C	ENSP00000494815.1:n.*1180T>C
ENST00000647508.1:c.*14T>C	ENSP00000496445.1:n.*14T>C
ENST00000647515.1:c.*781T>C	ENSP00000495857.1:n.*781T>C
ENST00000348513.10:c.*14T>C	ENSP00000323967.6:n.*14T>C
ENST00000431889.6:c.*14T>C	ENSP00000445370.1:n.*14T>C
ENST00000469334.5:n.1837T>C
ENST00000578112.5:c.*1047T>C	ENSP00000464501.1:n.*1047T>C
NM_003079.4:c.*14T>C	NP_003070.3:n.*14T>C
NM_003079.5:c.*14T>C MANE Select	NP_003070.3:n.*14T>C