Canonical Allele Identifier: CA399361071

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785111C>A (hg19) ; chr17:g.40628859C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628859C>A , CM000679.2:g.40628859C>A	GRCh38
NC_000017.10:g.38785111C>A , CM000679.1:g.38785111C>A	GRCh37
NC_000017.9:g.36038637C>A	NCBI36
NG_032163.1:g.23993G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*724G>T	ENSP00000466608.2:n.*724G>T
ENST00000348513.12:c.1162G>T MANE Select	ENSP00000323967.6:p.Gly388Cys
ENST00000377808.9:c.*149G>T	ENSP00000367039.4:n.*149G>T
ENST00000400122.8:c.*149G>T	ENSP00000411607.2:n.*149G>T
ENST00000469334.6:n.1760G>T
ENST00000578044.6:c.952G>T	ENSP00000464511.1:p.Gly318Cys
ENST00000578112.6:c.*959G>T	ENSP00000464501.1:n.*959G>T
ENST00000580419.6:c.*141G>T	ENSP00000462475.2:n.*141G>T
ENST00000642576.1:n.2305G>T
ENST00000643030.1:n.1785G>T
ENST00000643255.1:c.*3226G>T	ENSP00000493957.1:n.*3226G>T
ENST00000643318.1:c.952G>T	ENSP00000494771.1:p.Gly318Cys
ENST00000643378.1:n.1717G>T
ENST00000643683.1:c.1162G>T	ENSP00000496094.1:p.Gly388Cys
ENST00000643893.1:n.1455G>T
ENST00000644443.1:n.3050G>T
ENST00000644523.1:n.1208G>T
ENST00000644527.1:c.934G>T	ENSP00000493974.1:p.Gly312Cys
ENST00000644701.1:c.*149G>T	ENSP00000496097.1:n.*149G>T
ENST00000644909.1:c.*431G>T	ENSP00000493649.1:n.*431G>T
ENST00000645152.1:n.1825G>T
ENST00000645227.1:c.*850G>T	ENSP00000495021.1:n.*850G>T
ENST00000646242.1:n.7074G>T
ENST00000646283.1:c.970G>T	ENSP00000494537.1:p.Gly324Cys
ENST00000646401.1:n.2528G>T
ENST00000646448.1:n.2436G>T
ENST00000646856.1:c.*1038G>T	ENSP00000494505.1:n.*1038G>T
ENST00000647294.1:c.*1092G>T	ENSP00000494815.1:n.*1092G>T
ENST00000647508.1:c.1057G>T	ENSP00000496445.1:p.Gly353Cys
ENST00000647515.1:c.*693G>T	ENSP00000495857.1:n.*693G>T
ENST00000348513.10:c.1162G>T	ENSP00000323967.6:p.Gly388Cys
ENST00000377808.8:c.*149G>T	ENSP00000367039.4:n.*149G>T
ENST00000400122.7:c.*149G>T	ENSP00000411607.2:n.*149G>T
ENST00000431889.6:c.1108G>T	ENSP00000445370.1:p.Gly370Cys
ENST00000469334.5:n.1749G>T
ENST00000476049.1:c.*1510G>T	ENSP00000463483.1:n.*1510G>T
ENST00000578044.5:c.952G>T	ENSP00000464511.1:p.Gly318Cys
ENST00000578112.5:c.*959G>T	ENSP00000464501.1:n.*959G>T
ENST00000580419.5:c.1057G>T	ENSP00000462475.1:p.Gly353Cys
NM_003079.4:c.1162G>T	NP_003070.3:p.Gly388Cys
NM_003079.5:c.1162G>T MANE Select	NP_003070.3:p.Gly388Cys