Canonical Allele Identifier: CA499962755

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1150724
• ClinVar RCV Id: RCV001491429 ; RCV002334524
• dbSNP Id: rs2037060598
• gnomAD v3: 17-40628836-T-C
• gnomAD v4: 17-40628836-T-C
• MyVariant Identifiers: chr17:g.38785088T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628836T>C , CM000679.2:g.40628836T>C	GRCh38
NC_000017.10:g.38785088T>C , CM000679.1:g.38785088T>C	GRCh37
NC_000017.9:g.36038614T>C	NCBI36
NG_032163.1:g.24016A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*747A>G	ENSP00000466608.2:n.*747A>G
ENST00000348513.12:c.1185A>G MANE Select	ENSP00000323967.6:p.Thr395=
ENST00000377808.9:c.*172A>G	ENSP00000367039.4:n.*172A>G
ENST00000400122.8:c.*172A>G	ENSP00000411607.2:n.*172A>G
ENST00000469334.6:n.1783A>G
ENST00000578044.6:c.975A>G	ENSP00000464511.1:p.Thr325=
ENST00000578112.6:c.*982A>G	ENSP00000464501.1:n.*982A>G
ENST00000580419.6:c.*164A>G	ENSP00000462475.2:n.*164A>G
ENST00000642576.1:n.2328A>G
ENST00000643030.1:n.1808A>G
ENST00000643255.1:c.*3249A>G	ENSP00000493957.1:n.*3249A>G
ENST00000643318.1:c.975A>G	ENSP00000494771.1:p.Thr325=
ENST00000643378.1:n.1740A>G
ENST00000643683.1:c.1185A>G	ENSP00000496094.1:p.Thr395=
ENST00000643893.1:n.1478A>G
ENST00000644443.1:n.3073A>G
ENST00000644523.1:n.1231A>G
ENST00000644527.1:c.957A>G	ENSP00000493974.1:p.Thr319=
ENST00000644701.1:c.*172A>G	ENSP00000496097.1:n.*172A>G
ENST00000644909.1:c.*454A>G	ENSP00000493649.1:n.*454A>G
ENST00000645152.1:n.1848A>G
ENST00000645227.1:c.*873A>G	ENSP00000495021.1:n.*873A>G
ENST00000646242.1:n.7097A>G
ENST00000646283.1:c.993A>G	ENSP00000494537.1:p.Thr331=
ENST00000646401.1:n.2551A>G
ENST00000646448.1:n.2459A>G
ENST00000646856.1:c.*1061A>G	ENSP00000494505.1:n.*1061A>G
ENST00000647294.1:c.*1115A>G	ENSP00000494815.1:n.*1115A>G
ENST00000647508.1:c.1080A>G	ENSP00000496445.1:p.Thr360=
ENST00000647515.1:c.*716A>G	ENSP00000495857.1:n.*716A>G
ENST00000348513.10:c.1185A>G	ENSP00000323967.6:p.Thr395=
ENST00000377808.8:c.*172A>G	ENSP00000367039.4:n.*172A>G
ENST00000400122.7:c.*172A>G	ENSP00000411607.2:n.*172A>G
ENST00000431889.6:c.1131A>G	ENSP00000445370.1:p.Thr377=
ENST00000469334.5:n.1772A>G
ENST00000476049.1:c.*1533A>G	ENSP00000463483.1:n.*1533A>G
ENST00000578044.5:c.975A>G	ENSP00000464511.1:p.Thr325=
ENST00000578112.5:c.*982A>G	ENSP00000464501.1:n.*982A>G
ENST00000580419.5:c.1080A>G	ENSP00000462475.1:p.Thr360=
NM_003079.4:c.1185A>G	NP_003070.3:p.Thr395=
NM_003079.5:c.1185A>G MANE Select	NP_003070.3:p.Thr395=