Canonical Allele Identifier: CA399361092

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1597741219
• MyVariant Identifiers: chr17:g.38785115G>C (hg19) ; chr17:g.40628863G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628863G>C , CM000679.2:g.40628863G>C	GRCh38
NC_000017.10:g.38785115G>C , CM000679.1:g.38785115G>C	GRCh37
NC_000017.9:g.36038641G>C	NCBI36
NG_032163.1:g.23989C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*720C>G	ENSP00000466608.2:n.*720C>G
ENST00000348513.12:c.1158C>G MANE Select	ENSP00000323967.6:p.Asn386Lys
ENST00000377808.9:c.*145C>G	ENSP00000367039.4:n.*145C>G
ENST00000400122.8:c.*145C>G	ENSP00000411607.2:n.*145C>G
ENST00000469334.6:n.1756C>G
ENST00000578044.6:c.948C>G	ENSP00000464511.1:p.Asn316Lys
ENST00000578112.6:c.*955C>G	ENSP00000464501.1:n.*955C>G
ENST00000580419.6:c.*137C>G	ENSP00000462475.2:n.*137C>G
ENST00000642576.1:n.2301C>G
ENST00000643030.1:n.1781C>G
ENST00000643255.1:c.*3222C>G	ENSP00000493957.1:n.*3222C>G
ENST00000643318.1:c.948C>G	ENSP00000494771.1:p.Asn316Lys
ENST00000643378.1:n.1713C>G
ENST00000643683.1:c.1158C>G	ENSP00000496094.1:p.Asn386Lys
ENST00000643893.1:n.1451C>G
ENST00000644443.1:n.3046C>G
ENST00000644523.1:n.1204C>G
ENST00000644527.1:c.930C>G	ENSP00000493974.1:p.Asn310Lys
ENST00000644701.1:c.*145C>G	ENSP00000496097.1:n.*145C>G
ENST00000644909.1:c.*427C>G	ENSP00000493649.1:n.*427C>G
ENST00000645152.1:n.1821C>G
ENST00000645227.1:c.*846C>G	ENSP00000495021.1:n.*846C>G
ENST00000646242.1:n.7070C>G
ENST00000646283.1:c.966C>G	ENSP00000494537.1:p.Asn322Lys
ENST00000646401.1:n.2524C>G
ENST00000646448.1:n.2432C>G
ENST00000646856.1:c.*1034C>G	ENSP00000494505.1:n.*1034C>G
ENST00000647294.1:c.*1088C>G	ENSP00000494815.1:n.*1088C>G
ENST00000647508.1:c.1053C>G	ENSP00000496445.1:p.Asn351Lys
ENST00000647515.1:c.*689C>G	ENSP00000495857.1:n.*689C>G
ENST00000348513.10:c.1158C>G	ENSP00000323967.6:p.Asn386Lys
ENST00000377808.8:c.*145C>G	ENSP00000367039.4:n.*145C>G
ENST00000400122.7:c.*145C>G	ENSP00000411607.2:n.*145C>G
ENST00000431889.6:c.1104C>G	ENSP00000445370.1:p.Asn368Lys
ENST00000469334.5:n.1745C>G
ENST00000476049.1:c.*1506C>G	ENSP00000463483.1:n.*1506C>G
ENST00000578044.5:c.948C>G	ENSP00000464511.1:p.Asn316Lys
ENST00000578112.5:c.*955C>G	ENSP00000464501.1:n.*955C>G
ENST00000580419.5:c.1053C>G	ENSP00000462475.1:p.Asn351Lys
NM_003079.4:c.1158C>G	NP_003070.3:p.Asn386Lys
NM_003079.5:c.1158C>G MANE Select	NP_003070.3:p.Asn386Lys