Canonical Allele Identifier: CA2637750027

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628485-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628485C>A , CM000679.2:g.40628485C>A	GRCh38
NC_000017.10:g.38784737C>A , CM000679.1:g.38784737C>A	GRCh37
NC_000017.9:g.36038263C>A	NCBI36
NG_032163.1:g.24367G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*1098G>T	ENSP00000466608.2:n.*1098G>T
ENST00000348513.12:c.*300G>T MANE Select	ENSP00000323967.6:n.*300G>T
ENST00000377808.9:c.*523G>T	ENSP00000367039.4:n.*523G>T
ENST00000400122.8:c.*523G>T	ENSP00000411607.2:n.*523G>T
ENST00000469334.6:n.2134G>T
ENST00000578112.6:c.*1333G>T	ENSP00000464501.1:n.*1333G>T
ENST00000580419.6:c.*515G>T	ENSP00000462475.2:n.*515G>T
ENST00000642576.1:n.2679G>T
ENST00000643030.1:n.2159G>T
ENST00000643255.1:c.*3600G>T	ENSP00000493957.1:n.*3600G>T
ENST00000643318.1:c.*300G>T	ENSP00000494771.1:n.*300G>T
ENST00000643378.1:n.2091G>T
ENST00000643683.1:c.*300G>T	ENSP00000496094.1:n.*300G>T
ENST00000643893.1:n.1829G>T
ENST00000644443.1:n.3424G>T
ENST00000644523.1:n.1582G>T
ENST00000644527.1:c.*300G>T	ENSP00000493974.1:n.*300G>T
ENST00000644701.1:c.*523G>T	ENSP00000496097.1:n.*523G>T
ENST00000644909.1:c.*805G>T	ENSP00000493649.1:n.*805G>T
ENST00000645152.1:n.2199G>T
ENST00000645227.1:c.*1224G>T	ENSP00000495021.1:n.*1224G>T
ENST00000646242.1:n.7448G>T
ENST00000646283.1:c.*300G>T	ENSP00000494537.1:n.*300G>T
ENST00000646401.1:n.2902G>T
ENST00000646856.1:c.*1412G>T	ENSP00000494505.1:n.*1412G>T
ENST00000647294.1:c.*1466G>T	ENSP00000494815.1:n.*1466G>T
ENST00000647508.1:c.*300G>T	ENSP00000496445.1:n.*300G>T
ENST00000647515.1:c.*1067G>T	ENSP00000495857.1:n.*1067G>T
ENST00000348513.10:c.*300G>T	ENSP00000323967.6:n.*300G>T
ENST00000431889.6:c.*300G>T	ENSP00000445370.1:n.*300G>T
ENST00000469334.5:n.2123G>T
ENST00000578112.5:c.*1333G>T	ENSP00000464501.1:n.*1333G>T
NM_003079.4:c.*300G>T	NP_003070.3:n.*300G>T
NM_003079.5:c.*300G>T MANE Select	NP_003070.3:n.*300G>T