Canonical Allele Identifier: CA399360955

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1742697
• ClinVar RCV Id: RCV002335447
• dbSNP Id: rs1208733370
• gnomAD v3: 17-40628838-T-C
• gnomAD v4: 17-40628838-T-C
• MyVariant Identifiers: chr17:g.38785090T>C (hg19) ; chr17:g.40628838T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628838T>C , CM000679.2:g.40628838T>C	GRCh38
NC_000017.10:g.38785090T>C , CM000679.1:g.38785090T>C	GRCh37
NC_000017.9:g.36038616T>C	NCBI36
NG_032163.1:g.24014A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*745A>G	ENSP00000466608.2:n.*745A>G
ENST00000348513.12:c.1183A>G MANE Select	ENSP00000323967.6:p.Thr395Ala
ENST00000377808.9:c.*170A>G	ENSP00000367039.4:n.*170A>G
ENST00000400122.8:c.*170A>G	ENSP00000411607.2:n.*170A>G
ENST00000469334.6:n.1781A>G
ENST00000578044.6:c.973A>G	ENSP00000464511.1:p.Thr325Ala
ENST00000578112.6:c.*980A>G	ENSP00000464501.1:n.*980A>G
ENST00000580419.6:c.*162A>G	ENSP00000462475.2:n.*162A>G
ENST00000642576.1:n.2326A>G
ENST00000643030.1:n.1806A>G
ENST00000643255.1:c.*3247A>G	ENSP00000493957.1:n.*3247A>G
ENST00000643318.1:c.973A>G	ENSP00000494771.1:p.Thr325Ala
ENST00000643378.1:n.1738A>G
ENST00000643683.1:c.1183A>G	ENSP00000496094.1:p.Thr395Ala
ENST00000643893.1:n.1476A>G
ENST00000644443.1:n.3071A>G
ENST00000644523.1:n.1229A>G
ENST00000644527.1:c.955A>G	ENSP00000493974.1:p.Thr319Ala
ENST00000644701.1:c.*170A>G	ENSP00000496097.1:n.*170A>G
ENST00000644909.1:c.*452A>G	ENSP00000493649.1:n.*452A>G
ENST00000645152.1:n.1846A>G
ENST00000645227.1:c.*871A>G	ENSP00000495021.1:n.*871A>G
ENST00000646242.1:n.7095A>G
ENST00000646283.1:c.991A>G	ENSP00000494537.1:p.Thr331Ala
ENST00000646401.1:n.2549A>G
ENST00000646448.1:n.2457A>G
ENST00000646856.1:c.*1059A>G	ENSP00000494505.1:n.*1059A>G
ENST00000647294.1:c.*1113A>G	ENSP00000494815.1:n.*1113A>G
ENST00000647508.1:c.1078A>G	ENSP00000496445.1:p.Thr360Ala
ENST00000647515.1:c.*714A>G	ENSP00000495857.1:n.*714A>G
ENST00000348513.10:c.1183A>G	ENSP00000323967.6:p.Thr395Ala
ENST00000377808.8:c.*170A>G	ENSP00000367039.4:n.*170A>G
ENST00000400122.7:c.*170A>G	ENSP00000411607.2:n.*170A>G
ENST00000431889.6:c.1129A>G	ENSP00000445370.1:p.Thr377Ala
ENST00000469334.5:n.1770A>G
ENST00000476049.1:c.*1531A>G	ENSP00000463483.1:n.*1531A>G
ENST00000578044.5:c.973A>G	ENSP00000464511.1:p.Thr325Ala
ENST00000578112.5:c.*980A>G	ENSP00000464501.1:n.*980A>G
ENST00000580419.5:c.1078A>G	ENSP00000462475.1:p.Thr360Ala
NM_003079.4:c.1183A>G	NP_003070.3:p.Thr395Ala
NM_003079.5:c.1183A>G MANE Select	NP_003070.3:p.Thr395Ala