Canonical Allele Identifier: CA399360870

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785075G>T (hg19) ; chr17:g.40628823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628823G>T , CM000679.2:g.40628823G>T	GRCh38
NC_000017.10:g.38785075G>T , CM000679.1:g.38785075G>T	GRCh37
NC_000017.9:g.36038601G>T	NCBI36
NG_032163.1:g.24029C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*760C>A	ENSP00000466608.2:n.*760C>A
ENST00000348513.12:c.1198C>A MANE Select	ENSP00000323967.6:p.Pro400Thr
ENST00000377808.9:c.*185C>A	ENSP00000367039.4:n.*185C>A
ENST00000400122.8:c.*185C>A	ENSP00000411607.2:n.*185C>A
ENST00000469334.6:n.1796C>A
ENST00000578044.6:c.988C>A	ENSP00000464511.1:p.Pro330Thr
ENST00000578112.6:c.*995C>A	ENSP00000464501.1:n.*995C>A
ENST00000580419.6:c.*177C>A	ENSP00000462475.2:n.*177C>A
ENST00000642576.1:n.2341C>A
ENST00000643030.1:n.1821C>A
ENST00000643255.1:c.*3262C>A	ENSP00000493957.1:n.*3262C>A
ENST00000643318.1:c.988C>A	ENSP00000494771.1:p.Pro330Thr
ENST00000643378.1:n.1753C>A
ENST00000643683.1:c.1198C>A	ENSP00000496094.1:p.Pro400Thr
ENST00000643893.1:n.1491C>A
ENST00000644443.1:n.3086C>A
ENST00000644523.1:n.1244C>A
ENST00000644527.1:c.970C>A	ENSP00000493974.1:p.Pro324Thr
ENST00000644701.1:c.*185C>A	ENSP00000496097.1:n.*185C>A
ENST00000644909.1:c.*467C>A	ENSP00000493649.1:n.*467C>A
ENST00000645152.1:n.1861C>A
ENST00000645227.1:c.*886C>A	ENSP00000495021.1:n.*886C>A
ENST00000646242.1:n.7110C>A
ENST00000646283.1:c.1006C>A	ENSP00000494537.1:p.Pro336Thr
ENST00000646401.1:n.2564C>A
ENST00000646448.1:n.2472C>A
ENST00000646856.1:c.*1074C>A	ENSP00000494505.1:n.*1074C>A
ENST00000647294.1:c.*1128C>A	ENSP00000494815.1:n.*1128C>A
ENST00000647508.1:c.1093C>A	ENSP00000496445.1:p.Pro365Thr
ENST00000647515.1:c.*729C>A	ENSP00000495857.1:n.*729C>A
ENST00000348513.10:c.1198C>A	ENSP00000323967.6:p.Pro400Thr
ENST00000377808.8:c.*185C>A	ENSP00000367039.4:n.*185C>A
ENST00000400122.7:c.*185C>A	ENSP00000411607.2:n.*185C>A
ENST00000431889.6:c.1144C>A	ENSP00000445370.1:p.Pro382Thr
ENST00000469334.5:n.1785C>A
ENST00000476049.1:c.*1546C>A	ENSP00000463483.1:n.*1546C>A
ENST00000578044.5:c.988C>A	ENSP00000464511.1:p.Pro330Thr
ENST00000578112.5:c.*995C>A	ENSP00000464501.1:n.*995C>A
ENST00000580419.5:c.1093C>A	ENSP00000462475.1:p.Pro365Thr
NM_003079.4:c.1198C>A	NP_003070.3:p.Pro400Thr
NM_003079.5:c.1198C>A MANE Select	NP_003070.3:p.Pro400Thr