Canonical Allele Identifier: CA290547498

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 2428099
• ClinVar RCV Id: RCV003117070
• dbSNP Id: rs960134949
• MyVariant Identifiers: chr17:g.38785110C>T (hg19) ; chr17:g.40628858C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628858C>T , CM000679.2:g.40628858C>T	GRCh38
NC_000017.10:g.38785110C>T , CM000679.1:g.38785110C>T	GRCh37
NC_000017.9:g.36038636C>T	NCBI36
NG_032163.1:g.23994G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*725G>A	ENSP00000466608.2:n.*725G>A
ENST00000348513.12:c.1163G>A MANE Select	ENSP00000323967.6:p.Gly388Asp
ENST00000377808.9:c.*150G>A	ENSP00000367039.4:n.*150G>A
ENST00000400122.8:c.*150G>A	ENSP00000411607.2:n.*150G>A
ENST00000469334.6:n.1761G>A
ENST00000578044.6:c.953G>A	ENSP00000464511.1:p.Gly318Asp
ENST00000578112.6:c.*960G>A	ENSP00000464501.1:n.*960G>A
ENST00000580419.6:c.*142G>A	ENSP00000462475.2:n.*142G>A
ENST00000642576.1:n.2306G>A
ENST00000643030.1:n.1786G>A
ENST00000643255.1:c.*3227G>A	ENSP00000493957.1:n.*3227G>A
ENST00000643318.1:c.953G>A	ENSP00000494771.1:p.Gly318Asp
ENST00000643378.1:n.1718G>A
ENST00000643683.1:c.1163G>A	ENSP00000496094.1:p.Gly388Asp
ENST00000643893.1:n.1456G>A
ENST00000644443.1:n.3051G>A
ENST00000644523.1:n.1209G>A
ENST00000644527.1:c.935G>A	ENSP00000493974.1:p.Gly312Asp
ENST00000644701.1:c.*150G>A	ENSP00000496097.1:n.*150G>A
ENST00000644909.1:c.*432G>A	ENSP00000493649.1:n.*432G>A
ENST00000645152.1:n.1826G>A
ENST00000645227.1:c.*851G>A	ENSP00000495021.1:n.*851G>A
ENST00000646242.1:n.7075G>A
ENST00000646283.1:c.971G>A	ENSP00000494537.1:p.Gly324Asp
ENST00000646401.1:n.2529G>A
ENST00000646448.1:n.2437G>A
ENST00000646856.1:c.*1039G>A	ENSP00000494505.1:n.*1039G>A
ENST00000647294.1:c.*1093G>A	ENSP00000494815.1:n.*1093G>A
ENST00000647508.1:c.1058G>A	ENSP00000496445.1:p.Gly353Asp
ENST00000647515.1:c.*694G>A	ENSP00000495857.1:n.*694G>A
ENST00000348513.10:c.1163G>A	ENSP00000323967.6:p.Gly388Asp
ENST00000377808.8:c.*150G>A	ENSP00000367039.4:n.*150G>A
ENST00000400122.7:c.*150G>A	ENSP00000411607.2:n.*150G>A
ENST00000431889.6:c.1109G>A	ENSP00000445370.1:p.Gly370Asp
ENST00000469334.5:n.1750G>A
ENST00000476049.1:c.*1511G>A	ENSP00000463483.1:n.*1511G>A
ENST00000578044.5:c.953G>A	ENSP00000464511.1:p.Gly318Asp
ENST00000578112.5:c.*960G>A	ENSP00000464501.1:n.*960G>A
ENST00000580419.5:c.1058G>A	ENSP00000462475.1:p.Gly353Asp
NM_003079.4:c.1163G>A	NP_003070.3:p.Gly388Asp
NM_003079.5:c.1163G>A MANE Select	NP_003070.3:p.Gly388Asp