Canonical Allele Identifier: CA2637750106

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628606-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628606C>T , CM000679.2:g.40628606C>T	GRCh38
NC_000017.10:g.38784858C>T , CM000679.1:g.38784858C>T	GRCh37
NC_000017.9:g.36038384C>T	NCBI36
NG_032163.1:g.24246G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*977G>A	ENSP00000466608.2:n.*977G>A
ENST00000348513.12:c.*179G>A MANE Select	ENSP00000323967.6:n.*179G>A
ENST00000377808.9:c.*402G>A	ENSP00000367039.4:n.*402G>A
ENST00000400122.8:c.*402G>A	ENSP00000411607.2:n.*402G>A
ENST00000469334.6:n.2013G>A
ENST00000578112.6:c.*1212G>A	ENSP00000464501.1:n.*1212G>A
ENST00000580419.6:c.*394G>A	ENSP00000462475.2:n.*394G>A
ENST00000642576.1:n.2558G>A
ENST00000643030.1:n.2038G>A
ENST00000643255.1:c.*3479G>A	ENSP00000493957.1:n.*3479G>A
ENST00000643318.1:c.*179G>A	ENSP00000494771.1:n.*179G>A
ENST00000643378.1:n.1970G>A
ENST00000643683.1:c.*179G>A	ENSP00000496094.1:n.*179G>A
ENST00000643893.1:n.1708G>A
ENST00000644443.1:n.3303G>A
ENST00000644523.1:n.1461G>A
ENST00000644527.1:c.*179G>A	ENSP00000493974.1:n.*179G>A
ENST00000644701.1:c.*402G>A	ENSP00000496097.1:n.*402G>A
ENST00000644909.1:c.*684G>A	ENSP00000493649.1:n.*684G>A
ENST00000645152.1:n.2078G>A
ENST00000645227.1:c.*1103G>A	ENSP00000495021.1:n.*1103G>A
ENST00000646242.1:n.7327G>A
ENST00000646283.1:c.*179G>A	ENSP00000494537.1:n.*179G>A
ENST00000646401.1:n.2781G>A
ENST00000646856.1:c.*1291G>A	ENSP00000494505.1:n.*1291G>A
ENST00000647294.1:c.*1345G>A	ENSP00000494815.1:n.*1345G>A
ENST00000647508.1:c.*179G>A	ENSP00000496445.1:n.*179G>A
ENST00000647515.1:c.*946G>A	ENSP00000495857.1:n.*946G>A
ENST00000348513.10:c.*179G>A	ENSP00000323967.6:n.*179G>A
ENST00000431889.6:c.*179G>A	ENSP00000445370.1:n.*179G>A
ENST00000469334.5:n.2002G>A
ENST00000578112.5:c.*1212G>A	ENSP00000464501.1:n.*1212G>A
NM_003079.4:c.*179G>A	NP_003070.3:n.*179G>A
NM_003079.5:c.*179G>A MANE Select	NP_003070.3:n.*179G>A