Canonical Allele Identifier: CA399360902

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785080T>G (hg19) ; chr17:g.40628828T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628828T>G , CM000679.2:g.40628828T>G	GRCh38
NC_000017.10:g.38785080T>G , CM000679.1:g.38785080T>G	GRCh37
NC_000017.9:g.36038606T>G	NCBI36
NG_032163.1:g.24024A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*755A>C	ENSP00000466608.2:n.*755A>C
ENST00000348513.12:c.1193A>C MANE Select	ENSP00000323967.6:p.Glu398Ala
ENST00000377808.9:c.*180A>C	ENSP00000367039.4:n.*180A>C
ENST00000400122.8:c.*180A>C	ENSP00000411607.2:n.*180A>C
ENST00000469334.6:n.1791A>C
ENST00000578044.6:c.983A>C	ENSP00000464511.1:p.Glu328Ala
ENST00000578112.6:c.*990A>C	ENSP00000464501.1:n.*990A>C
ENST00000580419.6:c.*172A>C	ENSP00000462475.2:n.*172A>C
ENST00000642576.1:n.2336A>C
ENST00000643030.1:n.1816A>C
ENST00000643255.1:c.*3257A>C	ENSP00000493957.1:n.*3257A>C
ENST00000643318.1:c.983A>C	ENSP00000494771.1:p.Glu328Ala
ENST00000643378.1:n.1748A>C
ENST00000643683.1:c.1193A>C	ENSP00000496094.1:p.Glu398Ala
ENST00000643893.1:n.1486A>C
ENST00000644443.1:n.3081A>C
ENST00000644523.1:n.1239A>C
ENST00000644527.1:c.965A>C	ENSP00000493974.1:p.Glu322Ala
ENST00000644701.1:c.*180A>C	ENSP00000496097.1:n.*180A>C
ENST00000644909.1:c.*462A>C	ENSP00000493649.1:n.*462A>C
ENST00000645152.1:n.1856A>C
ENST00000645227.1:c.*881A>C	ENSP00000495021.1:n.*881A>C
ENST00000646242.1:n.7105A>C
ENST00000646283.1:c.1001A>C	ENSP00000494537.1:p.Glu334Ala
ENST00000646401.1:n.2559A>C
ENST00000646448.1:n.2467A>C
ENST00000646856.1:c.*1069A>C	ENSP00000494505.1:n.*1069A>C
ENST00000647294.1:c.*1123A>C	ENSP00000494815.1:n.*1123A>C
ENST00000647508.1:c.1088A>C	ENSP00000496445.1:p.Glu363Ala
ENST00000647515.1:c.*724A>C	ENSP00000495857.1:n.*724A>C
ENST00000348513.10:c.1193A>C	ENSP00000323967.6:p.Glu398Ala
ENST00000377808.8:c.*180A>C	ENSP00000367039.4:n.*180A>C
ENST00000400122.7:c.*180A>C	ENSP00000411607.2:n.*180A>C
ENST00000431889.6:c.1139A>C	ENSP00000445370.1:p.Glu380Ala
ENST00000469334.5:n.1780A>C
ENST00000476049.1:c.*1541A>C	ENSP00000463483.1:n.*1541A>C
ENST00000578044.5:c.983A>C	ENSP00000464511.1:p.Glu328Ala
ENST00000578112.5:c.*990A>C	ENSP00000464501.1:n.*990A>C
ENST00000580419.5:c.1088A>C	ENSP00000462475.1:p.Glu363Ala
NM_003079.4:c.1193A>C	NP_003070.3:p.Glu398Ala
NM_003079.5:c.1193A>C MANE Select	NP_003070.3:p.Glu398Ala