Canonical Allele Identifier: CA399360850

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2037060386
• MyVariant Identifiers: chr17:g.38785071G>C (hg19) ; chr17:g.40628819G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628819G>C , CM000679.2:g.40628819G>C	GRCh38
NC_000017.10:g.38785071G>C , CM000679.1:g.38785071G>C	GRCh37
NC_000017.9:g.36038597G>C	NCBI36
NG_032163.1:g.24033C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*764C>G	ENSP00000466608.2:n.*764C>G
ENST00000348513.12:c.1202C>G MANE Select	ENSP00000323967.6:p.Thr401Arg
ENST00000377808.9:c.*189C>G	ENSP00000367039.4:n.*189C>G
ENST00000400122.8:c.*189C>G	ENSP00000411607.2:n.*189C>G
ENST00000469334.6:n.1800C>G
ENST00000578044.6:c.992C>G	ENSP00000464511.1:p.Thr331Arg
ENST00000578112.6:c.*999C>G	ENSP00000464501.1:n.*999C>G
ENST00000580419.6:c.*181C>G	ENSP00000462475.2:n.*181C>G
ENST00000642576.1:n.2345C>G
ENST00000643030.1:n.1825C>G
ENST00000643255.1:c.*3266C>G	ENSP00000493957.1:n.*3266C>G
ENST00000643318.1:c.992C>G	ENSP00000494771.1:p.Thr331Arg
ENST00000643378.1:n.1757C>G
ENST00000643683.1:c.1202C>G	ENSP00000496094.1:p.Thr401Arg
ENST00000643893.1:n.1495C>G
ENST00000644443.1:n.3090C>G
ENST00000644523.1:n.1248C>G
ENST00000644527.1:c.974C>G	ENSP00000493974.1:p.Thr325Arg
ENST00000644701.1:c.*189C>G	ENSP00000496097.1:n.*189C>G
ENST00000644909.1:c.*471C>G	ENSP00000493649.1:n.*471C>G
ENST00000645152.1:n.1865C>G
ENST00000645227.1:c.*890C>G	ENSP00000495021.1:n.*890C>G
ENST00000646242.1:n.7114C>G
ENST00000646283.1:c.1010C>G	ENSP00000494537.1:p.Thr337Arg
ENST00000646401.1:n.2568C>G
ENST00000646448.1:n.2476C>G
ENST00000646856.1:c.*1078C>G	ENSP00000494505.1:n.*1078C>G
ENST00000647294.1:c.*1132C>G	ENSP00000494815.1:n.*1132C>G
ENST00000647508.1:c.1097C>G	ENSP00000496445.1:p.Thr366Arg
ENST00000647515.1:c.*733C>G	ENSP00000495857.1:n.*733C>G
ENST00000348513.10:c.1202C>G	ENSP00000323967.6:p.Thr401Arg
ENST00000377808.8:c.*189C>G	ENSP00000367039.4:n.*189C>G
ENST00000400122.7:c.*189C>G	ENSP00000411607.2:n.*189C>G
ENST00000431889.6:c.1148C>G	ENSP00000445370.1:p.Thr383Arg
ENST00000469334.5:n.1789C>G
ENST00000476049.1:c.*1550C>G	ENSP00000463483.1:n.*1550C>G
ENST00000578044.5:c.992C>G	ENSP00000464511.1:p.Thr331Arg
ENST00000578112.5:c.*999C>G	ENSP00000464501.1:n.*999C>G
ENST00000580419.5:c.1097C>G	ENSP00000462475.1:p.Thr366Arg
NM_003079.4:c.1202C>G	NP_003070.3:p.Thr401Arg
NM_003079.5:c.1202C>G MANE Select	NP_003070.3:p.Thr401Arg