Canonical Allele Identifier: CA399361079

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 2624546
• ClinVar RCV Id: RCV003385817
• gnomAD v4: 17-40628861-G-A
• MyVariant Identifiers: chr17:g.38785113G>A (hg19) ; chr17:g.40628861G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628861G>A , CM000679.2:g.40628861G>A	GRCh38
NC_000017.10:g.38785113G>A , CM000679.1:g.38785113G>A	GRCh37
NC_000017.9:g.36038639G>A	NCBI36
NG_032163.1:g.23991C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*722C>T	ENSP00000466608.2:n.*722C>T
ENST00000348513.12:c.1160C>T MANE Select	ENSP00000323967.6:p.Thr387Ile
ENST00000377808.9:c.*147C>T	ENSP00000367039.4:n.*147C>T
ENST00000400122.8:c.*147C>T	ENSP00000411607.2:n.*147C>T
ENST00000469334.6:n.1758C>T
ENST00000578044.6:c.950C>T	ENSP00000464511.1:p.Thr317Ile
ENST00000578112.6:c.*957C>T	ENSP00000464501.1:n.*957C>T
ENST00000580419.6:c.*139C>T	ENSP00000462475.2:n.*139C>T
ENST00000642576.1:n.2303C>T
ENST00000643030.1:n.1783C>T
ENST00000643255.1:c.*3224C>T	ENSP00000493957.1:n.*3224C>T
ENST00000643318.1:c.950C>T	ENSP00000494771.1:p.Thr317Ile
ENST00000643378.1:n.1715C>T
ENST00000643683.1:c.1160C>T	ENSP00000496094.1:p.Thr387Ile
ENST00000643893.1:n.1453C>T
ENST00000644443.1:n.3048C>T
ENST00000644523.1:n.1206C>T
ENST00000644527.1:c.932C>T	ENSP00000493974.1:p.Thr311Ile
ENST00000644701.1:c.*147C>T	ENSP00000496097.1:n.*147C>T
ENST00000644909.1:c.*429C>T	ENSP00000493649.1:n.*429C>T
ENST00000645152.1:n.1823C>T
ENST00000645227.1:c.*848C>T	ENSP00000495021.1:n.*848C>T
ENST00000646242.1:n.7072C>T
ENST00000646283.1:c.968C>T	ENSP00000494537.1:p.Thr323Ile
ENST00000646401.1:n.2526C>T
ENST00000646448.1:n.2434C>T
ENST00000646856.1:c.*1036C>T	ENSP00000494505.1:n.*1036C>T
ENST00000647294.1:c.*1090C>T	ENSP00000494815.1:n.*1090C>T
ENST00000647508.1:c.1055C>T	ENSP00000496445.1:p.Thr352Ile
ENST00000647515.1:c.*691C>T	ENSP00000495857.1:n.*691C>T
ENST00000348513.10:c.1160C>T	ENSP00000323967.6:p.Thr387Ile
ENST00000377808.8:c.*147C>T	ENSP00000367039.4:n.*147C>T
ENST00000400122.7:c.*147C>T	ENSP00000411607.2:n.*147C>T
ENST00000431889.6:c.1106C>T	ENSP00000445370.1:p.Thr369Ile
ENST00000469334.5:n.1747C>T
ENST00000476049.1:c.*1508C>T	ENSP00000463483.1:n.*1508C>T
ENST00000578044.5:c.950C>T	ENSP00000464511.1:p.Thr317Ile
ENST00000578112.5:c.*957C>T	ENSP00000464501.1:n.*957C>T
ENST00000580419.5:c.1055C>T	ENSP00000462475.1:p.Thr352Ile
NM_003079.4:c.1160C>T	NP_003070.3:p.Thr387Ile
NM_003079.5:c.1160C>T MANE Select	NP_003070.3:p.Thr387Ile