Canonical Allele Identifier: CA399361659

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785212T>G (hg19) ; chr17:g.40628960T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628960T>G , CM000679.2:g.40628960T>G	GRCh38
NC_000017.10:g.38785212T>G , CM000679.1:g.38785212T>G	GRCh37
NC_000017.9:g.36038738T>G	NCBI36
NG_032163.1:g.23892A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*623A>C	ENSP00000466608.2:n.*623A>C
ENST00000348513.12:c.1061A>C MANE Select	ENSP00000323967.6:p.Gln354Pro
ENST00000377808.9:c.*48A>C	ENSP00000367039.4:n.*48A>C
ENST00000400122.8:c.*48A>C	ENSP00000411607.2:n.*48A>C
ENST00000469334.6:n.1659A>C
ENST00000578044.6:c.851A>C	ENSP00000464511.1:p.Gln284Pro
ENST00000578112.6:c.*858A>C	ENSP00000464501.1:n.*858A>C
ENST00000580419.6:c.*40A>C	ENSP00000462475.2:n.*40A>C
ENST00000642576.1:n.2204A>C
ENST00000643030.1:n.1684A>C
ENST00000643255.1:c.*3125A>C	ENSP00000493957.1:n.*3125A>C
ENST00000643318.1:c.851A>C	ENSP00000494771.1:p.Gln284Pro
ENST00000643378.1:n.1616A>C
ENST00000643683.1:c.1061A>C	ENSP00000496094.1:p.Gln354Pro
ENST00000643893.1:n.1354A>C
ENST00000644443.1:n.2949A>C
ENST00000644523.1:n.1107A>C
ENST00000644527.1:c.833A>C	ENSP00000493974.1:p.Gln278Pro
ENST00000644701.1:c.*48A>C	ENSP00000496097.1:n.*48A>C
ENST00000644909.1:c.*330A>C	ENSP00000493649.1:n.*330A>C
ENST00000645152.1:n.1724A>C
ENST00000645227.1:c.*749A>C	ENSP00000495021.1:n.*749A>C
ENST00000646242.1:n.6973A>C
ENST00000646283.1:c.869A>C	ENSP00000494537.1:p.Gln290Pro
ENST00000646401.1:n.2427A>C
ENST00000646448.1:n.2335A>C
ENST00000646856.1:c.*937A>C	ENSP00000494505.1:n.*937A>C
ENST00000647294.1:c.*991A>C	ENSP00000494815.1:n.*991A>C
ENST00000647508.1:c.956A>C	ENSP00000496445.1:p.Gln319Pro
ENST00000647515.1:c.*592A>C	ENSP00000495857.1:n.*592A>C
ENST00000348513.10:c.1061A>C	ENSP00000323967.6:p.Gln354Pro
ENST00000377808.8:c.*48A>C	ENSP00000367039.4:n.*48A>C
ENST00000400122.7:c.*48A>C	ENSP00000411607.2:n.*48A>C
ENST00000431889.6:c.1007A>C	ENSP00000445370.1:p.Gln336Pro
ENST00000469334.5:n.1648A>C
ENST00000476049.1:c.*1409A>C	ENSP00000463483.1:n.*1409A>C
ENST00000578044.5:c.851A>C	ENSP00000464511.1:p.Gln284Pro
ENST00000578112.5:c.*858A>C	ENSP00000464501.1:n.*858A>C
ENST00000580419.5:c.956A>C	ENSP00000462475.1:p.Gln319Pro
NM_003079.4:c.1061A>C	NP_003070.3:p.Gln354Pro
NM_003079.5:c.1061A>C MANE Select	NP_003070.3:p.Gln354Pro