Canonical Allele Identifier: CA2637750188

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628691-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628691A>C , CM000679.2:g.40628691A>C	GRCh38
NC_000017.10:g.38784943A>C , CM000679.1:g.38784943A>C	GRCh37
NC_000017.9:g.36038469A>C	NCBI36
NG_032163.1:g.24161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*892T>G	ENSP00000466608.2:n.*892T>G
ENST00000348513.12:c.*94T>G MANE Select	ENSP00000323967.6:n.*94T>G
ENST00000377808.9:c.*317T>G	ENSP00000367039.4:n.*317T>G
ENST00000400122.8:c.*317T>G	ENSP00000411607.2:n.*317T>G
ENST00000469334.6:n.1928T>G
ENST00000578112.6:c.*1127T>G	ENSP00000464501.1:n.*1127T>G
ENST00000580419.6:c.*309T>G	ENSP00000462475.2:n.*309T>G
ENST00000642576.1:n.2473T>G
ENST00000643030.1:n.1953T>G
ENST00000643255.1:c.*3394T>G	ENSP00000493957.1:n.*3394T>G
ENST00000643318.1:c.*94T>G	ENSP00000494771.1:n.*94T>G
ENST00000643378.1:n.1885T>G
ENST00000643683.1:c.*94T>G	ENSP00000496094.1:n.*94T>G
ENST00000643893.1:n.1623T>G
ENST00000644443.1:n.3218T>G
ENST00000644523.1:n.1376T>G
ENST00000644527.1:c.*94T>G	ENSP00000493974.1:n.*94T>G
ENST00000644701.1:c.*317T>G	ENSP00000496097.1:n.*317T>G
ENST00000644909.1:c.*599T>G	ENSP00000493649.1:n.*599T>G
ENST00000645152.1:n.1993T>G
ENST00000645227.1:c.*1018T>G	ENSP00000495021.1:n.*1018T>G
ENST00000646242.1:n.7242T>G
ENST00000646283.1:c.*94T>G	ENSP00000494537.1:n.*94T>G
ENST00000646401.1:n.2696T>G
ENST00000646856.1:c.*1206T>G	ENSP00000494505.1:n.*1206T>G
ENST00000647294.1:c.*1260T>G	ENSP00000494815.1:n.*1260T>G
ENST00000647508.1:c.*94T>G	ENSP00000496445.1:n.*94T>G
ENST00000647515.1:c.*861T>G	ENSP00000495857.1:n.*861T>G
ENST00000348513.10:c.*94T>G	ENSP00000323967.6:n.*94T>G
ENST00000431889.6:c.*94T>G	ENSP00000445370.1:n.*94T>G
ENST00000469334.5:n.1917T>G
ENST00000578112.5:c.*1127T>G	ENSP00000464501.1:n.*1127T>G
NM_003079.4:c.*94T>G	NP_003070.3:n.*94T>G
NM_003079.5:c.*94T>G MANE Select	NP_003070.3:n.*94T>G