Canonical Allele Identifier: CA2637750010

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628457-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628457C>G , CM000679.2:g.40628457C>G	GRCh38
NC_000017.10:g.38784709C>G , CM000679.1:g.38784709C>G	GRCh37
NC_000017.9:g.36038235C>G	NCBI36
NG_032163.1:g.24395G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1126G>C	ENSP00000466608.2:n.*1126G>C
ENST00000348513.12:c.*328G>C MANE Select	ENSP00000323967.6:n.*328G>C
ENST00000377808.9:c.*551G>C	ENSP00000367039.4:n.*551G>C
ENST00000400122.8:c.*551G>C	ENSP00000411607.2:n.*551G>C
ENST00000469334.6:n.2162G>C
ENST00000578112.6:c.*1361G>C	ENSP00000464501.1:n.*1361G>C
ENST00000580419.6:c.*543G>C	ENSP00000462475.2:n.*543G>C
ENST00000642576.1:n.2707G>C
ENST00000643030.1:n.2187G>C
ENST00000643255.1:c.*3628G>C	ENSP00000493957.1:n.*3628G>C
ENST00000643318.1:c.*328G>C	ENSP00000494771.1:n.*328G>C
ENST00000643378.1:n.2119G>C
ENST00000643683.1:c.*328G>C	ENSP00000496094.1:n.*328G>C
ENST00000643893.1:n.1857G>C
ENST00000644443.1:n.3452G>C
ENST00000644523.1:n.1610G>C
ENST00000644527.1:c.*328G>C	ENSP00000493974.1:n.*328G>C
ENST00000644701.1:c.*551G>C	ENSP00000496097.1:n.*551G>C
ENST00000644909.1:c.*833G>C	ENSP00000493649.1:n.*833G>C
ENST00000645152.1:n.2227G>C
ENST00000645227.1:c.*1252G>C	ENSP00000495021.1:n.*1252G>C
ENST00000646242.1:n.7476G>C
ENST00000646283.1:c.*328G>C	ENSP00000494537.1:n.*328G>C
ENST00000646401.1:n.2930G>C
ENST00000646856.1:c.*1440G>C	ENSP00000494505.1:n.*1440G>C
ENST00000647294.1:c.*1494G>C	ENSP00000494815.1:n.*1494G>C
ENST00000647508.1:c.*328G>C	ENSP00000496445.1:n.*328G>C
ENST00000647515.1:c.*1095G>C	ENSP00000495857.1:n.*1095G>C
ENST00000348513.10:c.*328G>C	ENSP00000323967.6:n.*328G>C
ENST00000578112.5:c.*1361G>C	ENSP00000464501.1:n.*1361G>C
NM_003079.4:c.*328G>C	NP_003070.3:n.*328G>C
NM_003079.5:c.*328G>C MANE Select	NP_003070.3:n.*328G>C