Canonical Allele Identifier: CA2576261823

Gene: SMARCE1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628777G>T , CM000679.2:g.40628777G>T	GRCh38
NC_000017.10:g.38785029G>T , CM000679.1:g.38785029G>T	GRCh37
NC_000017.9:g.36038555G>T	NCBI36
NG_032163.1:g.24075C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*806C>A	ENSP00000466608.2:n.*806C>A
ENST00000348513.12:c.*8C>A MANE Select	ENSP00000323967.6:n.*8C>A
ENST00000377808.9:c.*231C>A	ENSP00000367039.4:n.*231C>A
ENST00000400122.8:c.*231C>A	ENSP00000411607.2:n.*231C>A
ENST00000469334.6:n.1842C>A
ENST00000578112.6:c.*1041C>A	ENSP00000464501.1:n.*1041C>A
ENST00000580419.6:c.*223C>A	ENSP00000462475.2:n.*223C>A
ENST00000642576.1:n.2387C>A
ENST00000643030.1:n.1867C>A
ENST00000643255.1:c.*3308C>A	ENSP00000493957.1:n.*3308C>A
ENST00000643318.1:c.*8C>A	ENSP00000494771.1:n.*8C>A
ENST00000643378.1:n.1799C>A
ENST00000643683.1:c.*8C>A	ENSP00000496094.1:n.*8C>A
ENST00000643893.1:n.1537C>A
ENST00000644443.1:n.3132C>A
ENST00000644523.1:n.1290C>A
ENST00000644527.1:c.*8C>A	ENSP00000493974.1:n.*8C>A
ENST00000644701.1:c.*231C>A	ENSP00000496097.1:n.*231C>A
ENST00000644909.1:c.*513C>A	ENSP00000493649.1:n.*513C>A
ENST00000645152.1:n.1907C>A
ENST00000645227.1:c.*932C>A	ENSP00000495021.1:n.*932C>A
ENST00000646242.1:n.7156C>A
ENST00000646283.1:c.*8C>A	ENSP00000494537.1:n.*8C>A
ENST00000646401.1:n.2610C>A
ENST00000646448.1:n.2518C>A
ENST00000646856.1:c.*1120C>A	ENSP00000494505.1:n.*1120C>A
ENST00000647294.1:c.*1174C>A	ENSP00000494815.1:n.*1174C>A
ENST00000647508.1:c.*8C>A	ENSP00000496445.1:n.*8C>A
ENST00000647515.1:c.*775C>A	ENSP00000495857.1:n.*775C>A
ENST00000348513.10:c.*8C>A	ENSP00000323967.6:n.*8C>A
ENST00000431889.6:c.*8C>A	ENSP00000445370.1:n.*8C>A
ENST00000469334.5:n.1831C>A
ENST00000578112.5:c.*1041C>A	ENSP00000464501.1:n.*1041C>A
NM_003079.4:c.*8C>A	NP_003070.3:n.*8C>A
NM_003079.5:c.*8C>A MANE Select	NP_003070.3:n.*8C>A