Canonical Allele Identifier: CA399360995

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785097G>C (hg19) ; chr17:g.40628845G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628845G>C , CM000679.2:g.40628845G>C	GRCh38
NC_000017.10:g.38785097G>C , CM000679.1:g.38785097G>C	GRCh37
NC_000017.9:g.36038623G>C	NCBI36
NG_032163.1:g.24007C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*738C>G	ENSP00000466608.2:n.*738C>G
ENST00000348513.12:c.1176C>G MANE Select	ENSP00000323967.6:p.Asn392Lys
ENST00000377808.9:c.*163C>G	ENSP00000367039.4:n.*163C>G
ENST00000400122.8:c.*163C>G	ENSP00000411607.2:n.*163C>G
ENST00000469334.6:n.1774C>G
ENST00000578044.6:c.966C>G	ENSP00000464511.1:p.Asn322Lys
ENST00000578112.6:c.*973C>G	ENSP00000464501.1:n.*973C>G
ENST00000580419.6:c.*155C>G	ENSP00000462475.2:n.*155C>G
ENST00000642576.1:n.2319C>G
ENST00000643030.1:n.1799C>G
ENST00000643255.1:c.*3240C>G	ENSP00000493957.1:n.*3240C>G
ENST00000643318.1:c.966C>G	ENSP00000494771.1:p.Asn322Lys
ENST00000643378.1:n.1731C>G
ENST00000643683.1:c.1176C>G	ENSP00000496094.1:p.Asn392Lys
ENST00000643893.1:n.1469C>G
ENST00000644443.1:n.3064C>G
ENST00000644523.1:n.1222C>G
ENST00000644527.1:c.948C>G	ENSP00000493974.1:p.Asn316Lys
ENST00000644701.1:c.*163C>G	ENSP00000496097.1:n.*163C>G
ENST00000644909.1:c.*445C>G	ENSP00000493649.1:n.*445C>G
ENST00000645152.1:n.1839C>G
ENST00000645227.1:c.*864C>G	ENSP00000495021.1:n.*864C>G
ENST00000646242.1:n.7088C>G
ENST00000646283.1:c.984C>G	ENSP00000494537.1:p.Asn328Lys
ENST00000646401.1:n.2542C>G
ENST00000646448.1:n.2450C>G
ENST00000646856.1:c.*1052C>G	ENSP00000494505.1:n.*1052C>G
ENST00000647294.1:c.*1106C>G	ENSP00000494815.1:n.*1106C>G
ENST00000647508.1:c.1071C>G	ENSP00000496445.1:p.Asn357Lys
ENST00000647515.1:c.*707C>G	ENSP00000495857.1:n.*707C>G
ENST00000348513.10:c.1176C>G	ENSP00000323967.6:p.Asn392Lys
ENST00000377808.8:c.*163C>G	ENSP00000367039.4:n.*163C>G
ENST00000400122.7:c.*163C>G	ENSP00000411607.2:n.*163C>G
ENST00000431889.6:c.1122C>G	ENSP00000445370.1:p.Asn374Lys
ENST00000469334.5:n.1763C>G
ENST00000476049.1:c.*1524C>G	ENSP00000463483.1:n.*1524C>G
ENST00000578044.5:c.966C>G	ENSP00000464511.1:p.Asn322Lys
ENST00000578112.5:c.*973C>G	ENSP00000464501.1:n.*973C>G
ENST00000580419.5:c.1071C>G	ENSP00000462475.1:p.Asn357Lys
NM_003079.4:c.1176C>G	NP_003070.3:p.Asn392Lys
NM_003079.5:c.1176C>G MANE Select	NP_003070.3:p.Asn392Lys