Canonical Allele Identifier: CA399364479

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40631675-G-T
• MyVariant Identifiers: chr17:g.38787927G>T (hg19) ; chr17:g.40631675G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40631675G>T , CM000679.2:g.40631675G>T	GRCh38
NC_000017.10:g.38787927G>T , CM000679.1:g.38787927G>T	GRCh37
NC_000017.9:g.36041453G>T	NCBI36
NG_032163.1:g.21177C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.733C>A	ENSP00000466608.2:p.Leu245Ile
ENST00000348513.12:c.733C>A MANE Select	ENSP00000323967.6:p.Leu245Ile
ENST00000377808.9:c.628C>A	ENSP00000367039.4:p.Leu210Ile
ENST00000400122.8:c.523C>A	ENSP00000411607.2:p.Leu175Ile
ENST00000447024.6:c.733C>A	ENSP00000392958.2:p.Leu245Ile
ENST00000469334.6:n.1331C>A
ENST00000478349.7:c.685C>A	ENSP00000463216.2:p.Leu229Ile
ENST00000578044.6:c.523C>A	ENSP00000464511.1:p.Leu175Ile
ENST00000578112.6:c.*530C>A	ENSP00000464501.1:n.*530C>A
ENST00000580419.6:c.628C>A	ENSP00000462475.2:p.Leu210Ile
ENST00000580654.6:c.679C>A	ENSP00000464061.2:p.Leu227Ile
ENST00000642459.1:c.523C>A	ENSP00000496546.1:p.Leu175Ile
ENST00000642576.1:n.1209C>A
ENST00000643030.1:n.689C>A
ENST00000643255.1:c.*2797C>A	ENSP00000493957.1:n.*2797C>A
ENST00000643318.1:c.523C>A	ENSP00000494771.1:p.Leu175Ile
ENST00000643378.1:n.1288C>A
ENST00000643580.1:n.87C>A
ENST00000643683.1:c.733C>A	ENSP00000496094.1:p.Leu245Ile
ENST00000643893.1:n.1026C>A
ENST00000644443.1:n.1954C>A
ENST00000644523.1:n.779C>A
ENST00000644527.1:c.523C>A	ENSP00000493974.1:p.Leu175Ile
ENST00000644701.1:c.733C>A	ENSP00000496097.1:p.Leu245Ile
ENST00000644909.1:c.*2C>A	ENSP00000493649.1:n.*2C>A
ENST00000645104.1:c.628C>A	ENSP00000496311.1:p.Leu210Ile
ENST00000645152.1:n.729C>A
ENST00000645227.1:c.*342C>A	ENSP00000495021.1:n.*342C>A
ENST00000646242.1:n.4925C>A
ENST00000646283.1:c.541C>A	ENSP00000494537.1:p.Leu181Ile
ENST00000646401.1:n.1353C>A
ENST00000646448.1:n.1340C>A
ENST00000646482.1:c.733C>A	ENSP00000496661.1:p.Leu245Ile
ENST00000646856.1:c.*530C>A	ENSP00000494505.1:n.*530C>A
ENST00000647294.1:c.*663C>A	ENSP00000494815.1:n.*663C>A
ENST00000647508.1:c.628C>A	ENSP00000496445.1:p.Leu210Ile
ENST00000647515.1:c.523C>A	ENSP00000495857.1:p.Leu175Ile
ENST00000264640.8:c.173C>A
ENST00000348513.10:c.733C>A	ENSP00000323967.6:p.Leu245Ile
ENST00000377808.8:c.628C>A	ENSP00000367039.4:p.Leu210Ile
ENST00000400122.7:c.523C>A	ENSP00000411607.2:p.Leu175Ile
ENST00000431889.6:c.679C>A	ENSP00000445370.1:p.Leu227Ile
ENST00000447024.5:c.115C>A	ENSP00000392958.1:p.Leu39Ile
ENST00000469334.5:n.1320C>A
ENST00000476049.1:c.*1081C>A	ENSP00000463483.1:n.*1081C>A
ENST00000478349.6:c.685C>A	ENSP00000463216.1:p.Leu229Ile
ENST00000578044.5:c.523C>A	ENSP00000464511.1:p.Leu175Ile
ENST00000578112.5:c.*530C>A	ENSP00000464501.1:n.*530C>A
ENST00000580419.5:c.628C>A	ENSP00000462475.1:p.Leu210Ile
NM_003079.4:c.733C>A	NP_003070.3:p.Leu245Ile
NM_003079.5:c.733C>A MANE Select	NP_003070.3:p.Leu245Ile