Canonical Allele Identifier: CA399361021

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785100G>C (hg19) ; chr17:g.40628848G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628848G>C , CM000679.2:g.40628848G>C	GRCh38
NC_000017.10:g.38785100G>C , CM000679.1:g.38785100G>C	GRCh37
NC_000017.9:g.36038626G>C	NCBI36
NG_032163.1:g.24004C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*735C>G	ENSP00000466608.2:n.*735C>G
ENST00000348513.12:c.1173C>G MANE Select	ENSP00000323967.6:p.Ser391Arg
ENST00000377808.9:c.*160C>G	ENSP00000367039.4:n.*160C>G
ENST00000400122.8:c.*160C>G	ENSP00000411607.2:n.*160C>G
ENST00000469334.6:n.1771C>G
ENST00000578044.6:c.963C>G	ENSP00000464511.1:p.Ser321Arg
ENST00000578112.6:c.*970C>G	ENSP00000464501.1:n.*970C>G
ENST00000580419.6:c.*152C>G	ENSP00000462475.2:n.*152C>G
ENST00000642576.1:n.2316C>G
ENST00000643030.1:n.1796C>G
ENST00000643255.1:c.*3237C>G	ENSP00000493957.1:n.*3237C>G
ENST00000643318.1:c.963C>G	ENSP00000494771.1:p.Ser321Arg
ENST00000643378.1:n.1728C>G
ENST00000643683.1:c.1173C>G	ENSP00000496094.1:p.Ser391Arg
ENST00000643893.1:n.1466C>G
ENST00000644443.1:n.3061C>G
ENST00000644523.1:n.1219C>G
ENST00000644527.1:c.945C>G	ENSP00000493974.1:p.Ser315Arg
ENST00000644701.1:c.*160C>G	ENSP00000496097.1:n.*160C>G
ENST00000644909.1:c.*442C>G	ENSP00000493649.1:n.*442C>G
ENST00000645152.1:n.1836C>G
ENST00000645227.1:c.*861C>G	ENSP00000495021.1:n.*861C>G
ENST00000646242.1:n.7085C>G
ENST00000646283.1:c.981C>G	ENSP00000494537.1:p.Ser327Arg
ENST00000646401.1:n.2539C>G
ENST00000646448.1:n.2447C>G
ENST00000646856.1:c.*1049C>G	ENSP00000494505.1:n.*1049C>G
ENST00000647294.1:c.*1103C>G	ENSP00000494815.1:n.*1103C>G
ENST00000647508.1:c.1068C>G	ENSP00000496445.1:p.Ser356Arg
ENST00000647515.1:c.*704C>G	ENSP00000495857.1:n.*704C>G
ENST00000348513.10:c.1173C>G	ENSP00000323967.6:p.Ser391Arg
ENST00000377808.8:c.*160C>G	ENSP00000367039.4:n.*160C>G
ENST00000400122.7:c.*160C>G	ENSP00000411607.2:n.*160C>G
ENST00000431889.6:c.1119C>G	ENSP00000445370.1:p.Ser373Arg
ENST00000469334.5:n.1760C>G
ENST00000476049.1:c.*1521C>G	ENSP00000463483.1:n.*1521C>G
ENST00000578044.5:c.963C>G	ENSP00000464511.1:p.Ser321Arg
ENST00000578112.5:c.*970C>G	ENSP00000464501.1:n.*970C>G
ENST00000580419.5:c.1068C>G	ENSP00000462475.1:p.Ser356Arg
NM_003079.4:c.1173C>G	NP_003070.3:p.Ser391Arg
NM_003079.5:c.1173C>G MANE Select	NP_003070.3:p.Ser391Arg