Canonical Allele Identifier: CA399360944

Gene: SMARCE1

Linked Data

• dbSNP Id: rs2143980331
• MyVariant Identifiers: chr17:g.38785089G>A (hg19) ; chr17:g.40628837G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628837G>A , CM000679.2:g.40628837G>A	GRCh38
NC_000017.10:g.38785089G>A , CM000679.1:g.38785089G>A	GRCh37
NC_000017.9:g.36038615G>A	NCBI36
NG_032163.1:g.24015C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*746C>T	ENSP00000466608.2:n.*746C>T
ENST00000348513.12:c.1184C>T MANE Select	ENSP00000323967.6:p.Thr395Ile
ENST00000377808.9:c.*171C>T	ENSP00000367039.4:n.*171C>T
ENST00000400122.8:c.*171C>T	ENSP00000411607.2:n.*171C>T
ENST00000469334.6:n.1782C>T
ENST00000578044.6:c.974C>T	ENSP00000464511.1:p.Thr325Ile
ENST00000578112.6:c.*981C>T	ENSP00000464501.1:n.*981C>T
ENST00000580419.6:c.*163C>T	ENSP00000462475.2:n.*163C>T
ENST00000642576.1:n.2327C>T
ENST00000643030.1:n.1807C>T
ENST00000643255.1:c.*3248C>T	ENSP00000493957.1:n.*3248C>T
ENST00000643318.1:c.974C>T	ENSP00000494771.1:p.Thr325Ile
ENST00000643378.1:n.1739C>T
ENST00000643683.1:c.1184C>T	ENSP00000496094.1:p.Thr395Ile
ENST00000643893.1:n.1477C>T
ENST00000644443.1:n.3072C>T
ENST00000644523.1:n.1230C>T
ENST00000644527.1:c.956C>T	ENSP00000493974.1:p.Thr319Ile
ENST00000644701.1:c.*171C>T	ENSP00000496097.1:n.*171C>T
ENST00000644909.1:c.*453C>T	ENSP00000493649.1:n.*453C>T
ENST00000645152.1:n.1847C>T
ENST00000645227.1:c.*872C>T	ENSP00000495021.1:n.*872C>T
ENST00000646242.1:n.7096C>T
ENST00000646283.1:c.992C>T	ENSP00000494537.1:p.Thr331Ile
ENST00000646401.1:n.2550C>T
ENST00000646448.1:n.2458C>T
ENST00000646856.1:c.*1060C>T	ENSP00000494505.1:n.*1060C>T
ENST00000647294.1:c.*1114C>T	ENSP00000494815.1:n.*1114C>T
ENST00000647508.1:c.1079C>T	ENSP00000496445.1:p.Thr360Ile
ENST00000647515.1:c.*715C>T	ENSP00000495857.1:n.*715C>T
ENST00000348513.10:c.1184C>T	ENSP00000323967.6:p.Thr395Ile
ENST00000377808.8:c.*171C>T	ENSP00000367039.4:n.*171C>T
ENST00000400122.7:c.*171C>T	ENSP00000411607.2:n.*171C>T
ENST00000431889.6:c.1130C>T	ENSP00000445370.1:p.Thr377Ile
ENST00000469334.5:n.1771C>T
ENST00000476049.1:c.*1532C>T	ENSP00000463483.1:n.*1532C>T
ENST00000578044.5:c.974C>T	ENSP00000464511.1:p.Thr325Ile
ENST00000578112.5:c.*981C>T	ENSP00000464501.1:n.*981C>T
ENST00000580419.5:c.1079C>T	ENSP00000462475.1:p.Thr360Ile
NM_003079.4:c.1184C>T	NP_003070.3:p.Thr395Ile
NM_003079.5:c.1184C>T MANE Select	NP_003070.3:p.Thr395Ile