Canonical Allele Identifier: CA399360856

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628820-T-C
• MyVariant Identifiers: chr17:g.38785072T>C (hg19) ; chr17:g.40628820T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628820T>C , CM000679.2:g.40628820T>C	GRCh38
NC_000017.10:g.38785072T>C , CM000679.1:g.38785072T>C	GRCh37
NC_000017.9:g.36038598T>C	NCBI36
NG_032163.1:g.24032A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*763A>G	ENSP00000466608.2:n.*763A>G
ENST00000348513.12:c.1201A>G MANE Select	ENSP00000323967.6:p.Thr401Ala
ENST00000377808.9:c.*188A>G	ENSP00000367039.4:n.*188A>G
ENST00000400122.8:c.*188A>G	ENSP00000411607.2:n.*188A>G
ENST00000469334.6:n.1799A>G
ENST00000578044.6:c.991A>G	ENSP00000464511.1:p.Thr331Ala
ENST00000578112.6:c.*998A>G	ENSP00000464501.1:n.*998A>G
ENST00000580419.6:c.*180A>G	ENSP00000462475.2:n.*180A>G
ENST00000642576.1:n.2344A>G
ENST00000643030.1:n.1824A>G
ENST00000643255.1:c.*3265A>G	ENSP00000493957.1:n.*3265A>G
ENST00000643318.1:c.991A>G	ENSP00000494771.1:p.Thr331Ala
ENST00000643378.1:n.1756A>G
ENST00000643683.1:c.1201A>G	ENSP00000496094.1:p.Thr401Ala
ENST00000643893.1:n.1494A>G
ENST00000644443.1:n.3089A>G
ENST00000644523.1:n.1247A>G
ENST00000644527.1:c.973A>G	ENSP00000493974.1:p.Thr325Ala
ENST00000644701.1:c.*188A>G	ENSP00000496097.1:n.*188A>G
ENST00000644909.1:c.*470A>G	ENSP00000493649.1:n.*470A>G
ENST00000645152.1:n.1864A>G
ENST00000645227.1:c.*889A>G	ENSP00000495021.1:n.*889A>G
ENST00000646242.1:n.7113A>G
ENST00000646283.1:c.1009A>G	ENSP00000494537.1:p.Thr337Ala
ENST00000646401.1:n.2567A>G
ENST00000646448.1:n.2475A>G
ENST00000646856.1:c.*1077A>G	ENSP00000494505.1:n.*1077A>G
ENST00000647294.1:c.*1131A>G	ENSP00000494815.1:n.*1131A>G
ENST00000647508.1:c.1096A>G	ENSP00000496445.1:p.Thr366Ala
ENST00000647515.1:c.*732A>G	ENSP00000495857.1:n.*732A>G
ENST00000348513.10:c.1201A>G	ENSP00000323967.6:p.Thr401Ala
ENST00000377808.8:c.*188A>G	ENSP00000367039.4:n.*188A>G
ENST00000400122.7:c.*188A>G	ENSP00000411607.2:n.*188A>G
ENST00000431889.6:c.1147A>G	ENSP00000445370.1:p.Thr383Ala
ENST00000469334.5:n.1788A>G
ENST00000476049.1:c.*1549A>G	ENSP00000463483.1:n.*1549A>G
ENST00000578044.5:c.991A>G	ENSP00000464511.1:p.Thr331Ala
ENST00000578112.5:c.*998A>G	ENSP00000464501.1:n.*998A>G
ENST00000580419.5:c.1096A>G	ENSP00000462475.1:p.Thr366Ala
NM_003079.4:c.1201A>G	NP_003070.3:p.Thr401Ala
NM_003079.5:c.1201A>G MANE Select	NP_003070.3:p.Thr401Ala