Canonical Allele Identifier: CA399361614

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785208C>A (hg19) ; chr17:g.40628956C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628956C>A , CM000679.2:g.40628956C>A	GRCh38
NC_000017.10:g.38785208C>A , CM000679.1:g.38785208C>A	GRCh37
NC_000017.9:g.36038734C>A	NCBI36
NG_032163.1:g.23896G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*627G>T	ENSP00000466608.2:n.*627G>T
ENST00000348513.12:c.1065G>T MANE Select	ENSP00000323967.6:p.Gln355His
ENST00000377808.9:c.*52G>T	ENSP00000367039.4:n.*52G>T
ENST00000400122.8:c.*52G>T	ENSP00000411607.2:n.*52G>T
ENST00000469334.6:n.1663G>T
ENST00000578044.6:c.855G>T	ENSP00000464511.1:p.Gln285His
ENST00000578112.6:c.*862G>T	ENSP00000464501.1:n.*862G>T
ENST00000580419.6:c.*44G>T	ENSP00000462475.2:n.*44G>T
ENST00000642576.1:n.2208G>T
ENST00000643030.1:n.1688G>T
ENST00000643255.1:c.*3129G>T	ENSP00000493957.1:n.*3129G>T
ENST00000643318.1:c.855G>T	ENSP00000494771.1:p.Gln285His
ENST00000643378.1:n.1620G>T
ENST00000643683.1:c.1065G>T	ENSP00000496094.1:p.Gln355His
ENST00000643893.1:n.1358G>T
ENST00000644443.1:n.2953G>T
ENST00000644523.1:n.1111G>T
ENST00000644527.1:c.837G>T	ENSP00000493974.1:p.Gln279His
ENST00000644701.1:c.*52G>T	ENSP00000496097.1:n.*52G>T
ENST00000644909.1:c.*334G>T	ENSP00000493649.1:n.*334G>T
ENST00000645152.1:n.1728G>T
ENST00000645227.1:c.*753G>T	ENSP00000495021.1:n.*753G>T
ENST00000646242.1:n.6977G>T
ENST00000646283.1:c.873G>T	ENSP00000494537.1:p.Gln291His
ENST00000646401.1:n.2431G>T
ENST00000646448.1:n.2339G>T
ENST00000646856.1:c.*941G>T	ENSP00000494505.1:n.*941G>T
ENST00000647294.1:c.*995G>T	ENSP00000494815.1:n.*995G>T
ENST00000647508.1:c.960G>T	ENSP00000496445.1:p.Gln320His
ENST00000647515.1:c.*596G>T	ENSP00000495857.1:n.*596G>T
ENST00000348513.10:c.1065G>T	ENSP00000323967.6:p.Gln355His
ENST00000377808.8:c.*52G>T	ENSP00000367039.4:n.*52G>T
ENST00000400122.7:c.*52G>T	ENSP00000411607.2:n.*52G>T
ENST00000431889.6:c.1011G>T	ENSP00000445370.1:p.Gln337His
ENST00000469334.5:n.1652G>T
ENST00000476049.1:c.*1413G>T	ENSP00000463483.1:n.*1413G>T
ENST00000578044.5:c.855G>T	ENSP00000464511.1:p.Gln285His
ENST00000578112.5:c.*862G>T	ENSP00000464501.1:n.*862G>T
ENST00000580419.5:c.960G>T	ENSP00000462475.1:p.Gln320His
NM_003079.4:c.1065G>T	NP_003070.3:p.Gln355His
NM_003079.5:c.1065G>T MANE Select	NP_003070.3:p.Gln355His