Canonical Allele Identifier: CA399361295

Gene: SMARCE1

Linked Data

• dbSNP Id: rs1597741256
• MyVariant Identifiers: chr17:g.38785152A>C (hg19) ; chr17:g.40628900A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628900A>C , CM000679.2:g.40628900A>C	GRCh38
NC_000017.10:g.38785152A>C , CM000679.1:g.38785152A>C	GRCh37
NC_000017.9:g.36038678A>C	NCBI36
NG_032163.1:g.23952T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*683T>G	ENSP00000466608.2:n.*683T>G
ENST00000348513.12:c.1121T>G MANE Select	ENSP00000323967.6:p.Val374Gly
ENST00000377808.9:c.*108T>G	ENSP00000367039.4:n.*108T>G
ENST00000400122.8:c.*108T>G	ENSP00000411607.2:n.*108T>G
ENST00000469334.6:n.1719T>G
ENST00000578044.6:c.911T>G	ENSP00000464511.1:p.Val304Gly
ENST00000578112.6:c.*918T>G	ENSP00000464501.1:n.*918T>G
ENST00000580419.6:c.*100T>G	ENSP00000462475.2:n.*100T>G
ENST00000642576.1:n.2264T>G
ENST00000643030.1:n.1744T>G
ENST00000643255.1:c.*3185T>G	ENSP00000493957.1:n.*3185T>G
ENST00000643318.1:c.911T>G	ENSP00000494771.1:p.Val304Gly
ENST00000643378.1:n.1676T>G
ENST00000643683.1:c.1121T>G	ENSP00000496094.1:p.Val374Gly
ENST00000643893.1:n.1414T>G
ENST00000644443.1:n.3009T>G
ENST00000644523.1:n.1167T>G
ENST00000644527.1:c.893T>G	ENSP00000493974.1:p.Val298Gly
ENST00000644701.1:c.*108T>G	ENSP00000496097.1:n.*108T>G
ENST00000644909.1:c.*390T>G	ENSP00000493649.1:n.*390T>G
ENST00000645152.1:n.1784T>G
ENST00000645227.1:c.*809T>G	ENSP00000495021.1:n.*809T>G
ENST00000646242.1:n.7033T>G
ENST00000646283.1:c.929T>G	ENSP00000494537.1:p.Val310Gly
ENST00000646401.1:n.2487T>G
ENST00000646448.1:n.2395T>G
ENST00000646856.1:c.*997T>G	ENSP00000494505.1:n.*997T>G
ENST00000647294.1:c.*1051T>G	ENSP00000494815.1:n.*1051T>G
ENST00000647508.1:c.1016T>G	ENSP00000496445.1:p.Val339Gly
ENST00000647515.1:c.*652T>G	ENSP00000495857.1:n.*652T>G
ENST00000348513.10:c.1121T>G	ENSP00000323967.6:p.Val374Gly
ENST00000377808.8:c.*108T>G	ENSP00000367039.4:n.*108T>G
ENST00000400122.7:c.*108T>G	ENSP00000411607.2:n.*108T>G
ENST00000431889.6:c.1067T>G	ENSP00000445370.1:p.Val356Gly
ENST00000469334.5:n.1708T>G
ENST00000476049.1:c.*1469T>G	ENSP00000463483.1:n.*1469T>G
ENST00000578044.5:c.911T>G	ENSP00000464511.1:p.Val304Gly
ENST00000578112.5:c.*918T>G	ENSP00000464501.1:n.*918T>G
ENST00000580419.5:c.1016T>G	ENSP00000462475.1:p.Val339Gly
NM_003079.4:c.1121T>G	NP_003070.3:p.Val374Gly
NM_003079.5:c.1121T>G MANE Select	NP_003070.3:p.Val374Gly