Canonical Allele Identifier: CA399360959

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785092G>C (hg19) ; chr17:g.40628840G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628840G>C , CM000679.2:g.40628840G>C	GRCh38
NC_000017.10:g.38785092G>C , CM000679.1:g.38785092G>C	GRCh37
NC_000017.9:g.36038618G>C	NCBI36
NG_032163.1:g.24012C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*743C>G	ENSP00000466608.2:n.*743C>G
ENST00000348513.12:c.1181C>G MANE Select	ENSP00000323967.6:p.Ala394Gly
ENST00000377808.9:c.*168C>G	ENSP00000367039.4:n.*168C>G
ENST00000400122.8:c.*168C>G	ENSP00000411607.2:n.*168C>G
ENST00000469334.6:n.1779C>G
ENST00000578044.6:c.971C>G	ENSP00000464511.1:p.Ala324Gly
ENST00000578112.6:c.*978C>G	ENSP00000464501.1:n.*978C>G
ENST00000580419.6:c.*160C>G	ENSP00000462475.2:n.*160C>G
ENST00000642576.1:n.2324C>G
ENST00000643030.1:n.1804C>G
ENST00000643255.1:c.*3245C>G	ENSP00000493957.1:n.*3245C>G
ENST00000643318.1:c.971C>G	ENSP00000494771.1:p.Ala324Gly
ENST00000643378.1:n.1736C>G
ENST00000643683.1:c.1181C>G	ENSP00000496094.1:p.Ala394Gly
ENST00000643893.1:n.1474C>G
ENST00000644443.1:n.3069C>G
ENST00000644523.1:n.1227C>G
ENST00000644527.1:c.953C>G	ENSP00000493974.1:p.Ala318Gly
ENST00000644701.1:c.*168C>G	ENSP00000496097.1:n.*168C>G
ENST00000644909.1:c.*450C>G	ENSP00000493649.1:n.*450C>G
ENST00000645152.1:n.1844C>G
ENST00000645227.1:c.*869C>G	ENSP00000495021.1:n.*869C>G
ENST00000646242.1:n.7093C>G
ENST00000646283.1:c.989C>G	ENSP00000494537.1:p.Ala330Gly
ENST00000646401.1:n.2547C>G
ENST00000646448.1:n.2455C>G
ENST00000646856.1:c.*1057C>G	ENSP00000494505.1:n.*1057C>G
ENST00000647294.1:c.*1111C>G	ENSP00000494815.1:n.*1111C>G
ENST00000647508.1:c.1076C>G	ENSP00000496445.1:p.Ala359Gly
ENST00000647515.1:c.*712C>G	ENSP00000495857.1:n.*712C>G
ENST00000348513.10:c.1181C>G	ENSP00000323967.6:p.Ala394Gly
ENST00000377808.8:c.*168C>G	ENSP00000367039.4:n.*168C>G
ENST00000400122.7:c.*168C>G	ENSP00000411607.2:n.*168C>G
ENST00000431889.6:c.1127C>G	ENSP00000445370.1:p.Ala376Gly
ENST00000469334.5:n.1768C>G
ENST00000476049.1:c.*1529C>G	ENSP00000463483.1:n.*1529C>G
ENST00000578044.5:c.971C>G	ENSP00000464511.1:p.Ala324Gly
ENST00000578112.5:c.*978C>G	ENSP00000464501.1:n.*978C>G
ENST00000580419.5:c.1076C>G	ENSP00000462475.1:p.Ala359Gly
NM_003079.4:c.1181C>G	NP_003070.3:p.Ala394Gly
NM_003079.5:c.1181C>G MANE Select	NP_003070.3:p.Ala394Gly