Canonical Allele Identifier: CA399360809

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785063T>G (hg19) ; chr17:g.40628811T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628811T>G , CM000679.2:g.40628811T>G	GRCh38
NC_000017.10:g.38785063T>G , CM000679.1:g.38785063T>G	GRCh37
NC_000017.9:g.36038589T>G	NCBI36
NG_032163.1:g.24041A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*772A>C	ENSP00000466608.2:n.*772A>C
ENST00000348513.12:c.1210A>C MANE Select	ENSP00000323967.6:p.Ile404Leu
ENST00000377808.9:c.*197A>C	ENSP00000367039.4:n.*197A>C
ENST00000400122.8:c.*197A>C	ENSP00000411607.2:n.*197A>C
ENST00000469334.6:n.1808A>C
ENST00000578044.6:c.1000A>C	ENSP00000464511.1:p.Ile334Leu
ENST00000578112.6:c.*1007A>C	ENSP00000464501.1:n.*1007A>C
ENST00000580419.6:c.*189A>C	ENSP00000462475.2:n.*189A>C
ENST00000642576.1:n.2353A>C
ENST00000643030.1:n.1833A>C
ENST00000643255.1:c.*3274A>C	ENSP00000493957.1:n.*3274A>C
ENST00000643318.1:c.1000A>C	ENSP00000494771.1:p.Ile334Leu
ENST00000643378.1:n.1765A>C
ENST00000643683.1:c.1210A>C	ENSP00000496094.1:p.Ile404Leu
ENST00000643893.1:n.1503A>C
ENST00000644443.1:n.3098A>C
ENST00000644523.1:n.1256A>C
ENST00000644527.1:c.982A>C	ENSP00000493974.1:p.Ile328Leu
ENST00000644701.1:c.*197A>C	ENSP00000496097.1:n.*197A>C
ENST00000644909.1:c.*479A>C	ENSP00000493649.1:n.*479A>C
ENST00000645152.1:n.1873A>C
ENST00000645227.1:c.*898A>C	ENSP00000495021.1:n.*898A>C
ENST00000646242.1:n.7122A>C
ENST00000646283.1:c.1018A>C	ENSP00000494537.1:p.Ile340Leu
ENST00000646401.1:n.2576A>C
ENST00000646448.1:n.2484A>C
ENST00000646856.1:c.*1086A>C	ENSP00000494505.1:n.*1086A>C
ENST00000647294.1:c.*1140A>C	ENSP00000494815.1:n.*1140A>C
ENST00000647508.1:c.1105A>C	ENSP00000496445.1:p.Ile369Leu
ENST00000647515.1:c.*741A>C	ENSP00000495857.1:n.*741A>C
ENST00000348513.10:c.1210A>C	ENSP00000323967.6:p.Ile404Leu
ENST00000377808.8:c.*197A>C	ENSP00000367039.4:n.*197A>C
ENST00000400122.7:c.*197A>C	ENSP00000411607.2:n.*197A>C
ENST00000431889.6:c.1156A>C	ENSP00000445370.1:p.Ile386Leu
ENST00000469334.5:n.1797A>C
ENST00000476049.1:c.*1558A>C	ENSP00000463483.1:n.*1558A>C
ENST00000578044.5:c.1000A>C	ENSP00000464511.1:p.Ile334Leu
ENST00000578112.5:c.*1007A>C	ENSP00000464501.1:n.*1007A>C
ENST00000580419.5:c.1105A>C	ENSP00000462475.1:p.Ile369Leu
NM_003079.4:c.1210A>C	NP_003070.3:p.Ile404Leu
NM_003079.5:c.1210A>C MANE Select	NP_003070.3:p.Ile404Leu