Canonical Allele Identifier: CA399360921

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785083T>G (hg19) ; chr17:g.40628831T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628831T>G , CM000679.2:g.40628831T>G	GRCh38
NC_000017.10:g.38785083T>G , CM000679.1:g.38785083T>G	GRCh37
NC_000017.9:g.36038609T>G	NCBI36
NG_032163.1:g.24021A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*752A>C	ENSP00000466608.2:n.*752A>C
ENST00000348513.12:c.1190A>C MANE Select	ENSP00000323967.6:p.Glu397Ala
ENST00000377808.9:c.*177A>C	ENSP00000367039.4:n.*177A>C
ENST00000400122.8:c.*177A>C	ENSP00000411607.2:n.*177A>C
ENST00000469334.6:n.1788A>C
ENST00000578044.6:c.980A>C	ENSP00000464511.1:p.Glu327Ala
ENST00000578112.6:c.*987A>C	ENSP00000464501.1:n.*987A>C
ENST00000580419.6:c.*169A>C	ENSP00000462475.2:n.*169A>C
ENST00000642576.1:n.2333A>C
ENST00000643030.1:n.1813A>C
ENST00000643255.1:c.*3254A>C	ENSP00000493957.1:n.*3254A>C
ENST00000643318.1:c.980A>C	ENSP00000494771.1:p.Glu327Ala
ENST00000643378.1:n.1745A>C
ENST00000643683.1:c.1190A>C	ENSP00000496094.1:p.Glu397Ala
ENST00000643893.1:n.1483A>C
ENST00000644443.1:n.3078A>C
ENST00000644523.1:n.1236A>C
ENST00000644527.1:c.962A>C	ENSP00000493974.1:p.Glu321Ala
ENST00000644701.1:c.*177A>C	ENSP00000496097.1:n.*177A>C
ENST00000644909.1:c.*459A>C	ENSP00000493649.1:n.*459A>C
ENST00000645152.1:n.1853A>C
ENST00000645227.1:c.*878A>C	ENSP00000495021.1:n.*878A>C
ENST00000646242.1:n.7102A>C
ENST00000646283.1:c.998A>C	ENSP00000494537.1:p.Glu333Ala
ENST00000646401.1:n.2556A>C
ENST00000646448.1:n.2464A>C
ENST00000646856.1:c.*1066A>C	ENSP00000494505.1:n.*1066A>C
ENST00000647294.1:c.*1120A>C	ENSP00000494815.1:n.*1120A>C
ENST00000647508.1:c.1085A>C	ENSP00000496445.1:p.Glu362Ala
ENST00000647515.1:c.*721A>C	ENSP00000495857.1:n.*721A>C
ENST00000348513.10:c.1190A>C	ENSP00000323967.6:p.Glu397Ala
ENST00000377808.8:c.*177A>C	ENSP00000367039.4:n.*177A>C
ENST00000400122.7:c.*177A>C	ENSP00000411607.2:n.*177A>C
ENST00000431889.6:c.1136A>C	ENSP00000445370.1:p.Glu379Ala
ENST00000469334.5:n.1777A>C
ENST00000476049.1:c.*1538A>C	ENSP00000463483.1:n.*1538A>C
ENST00000578044.5:c.980A>C	ENSP00000464511.1:p.Glu327Ala
ENST00000578112.5:c.*987A>C	ENSP00000464501.1:n.*987A>C
ENST00000580419.5:c.1085A>C	ENSP00000462475.1:p.Glu362Ala
NM_003079.4:c.1190A>C	NP_003070.3:p.Glu397Ala
NM_003079.5:c.1190A>C MANE Select	NP_003070.3:p.Glu397Ala