Canonical Allele Identifier: CA399361260

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785147T>A (hg19) ; chr17:g.40628895T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628895T>A , CM000679.2:g.40628895T>A	GRCh38
NC_000017.10:g.38785147T>A , CM000679.1:g.38785147T>A	GRCh37
NC_000017.9:g.36038673T>A	NCBI36
NG_032163.1:g.23957A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*688A>T	ENSP00000466608.2:n.*688A>T
ENST00000348513.12:c.1126A>T MANE Select	ENSP00000323967.6:p.Ser376Cys
ENST00000377808.9:c.*113A>T	ENSP00000367039.4:n.*113A>T
ENST00000400122.8:c.*113A>T	ENSP00000411607.2:n.*113A>T
ENST00000469334.6:n.1724A>T
ENST00000578044.6:c.916A>T	ENSP00000464511.1:p.Ser306Cys
ENST00000578112.6:c.*923A>T	ENSP00000464501.1:n.*923A>T
ENST00000580419.6:c.*105A>T	ENSP00000462475.2:n.*105A>T
ENST00000642576.1:n.2269A>T
ENST00000643030.1:n.1749A>T
ENST00000643255.1:c.*3190A>T	ENSP00000493957.1:n.*3190A>T
ENST00000643318.1:c.916A>T	ENSP00000494771.1:p.Ser306Cys
ENST00000643378.1:n.1681A>T
ENST00000643683.1:c.1126A>T	ENSP00000496094.1:p.Ser376Cys
ENST00000643893.1:n.1419A>T
ENST00000644443.1:n.3014A>T
ENST00000644523.1:n.1172A>T
ENST00000644527.1:c.898A>T	ENSP00000493974.1:p.Ser300Cys
ENST00000644701.1:c.*113A>T	ENSP00000496097.1:n.*113A>T
ENST00000644909.1:c.*395A>T	ENSP00000493649.1:n.*395A>T
ENST00000645152.1:n.1789A>T
ENST00000645227.1:c.*814A>T	ENSP00000495021.1:n.*814A>T
ENST00000646242.1:n.7038A>T
ENST00000646283.1:c.934A>T	ENSP00000494537.1:p.Ser312Cys
ENST00000646401.1:n.2492A>T
ENST00000646448.1:n.2400A>T
ENST00000646856.1:c.*1002A>T	ENSP00000494505.1:n.*1002A>T
ENST00000647294.1:c.*1056A>T	ENSP00000494815.1:n.*1056A>T
ENST00000647508.1:c.1021A>T	ENSP00000496445.1:p.Ser341Cys
ENST00000647515.1:c.*657A>T	ENSP00000495857.1:n.*657A>T
ENST00000348513.10:c.1126A>T	ENSP00000323967.6:p.Ser376Cys
ENST00000377808.8:c.*113A>T	ENSP00000367039.4:n.*113A>T
ENST00000400122.7:c.*113A>T	ENSP00000411607.2:n.*113A>T
ENST00000431889.6:c.1072A>T	ENSP00000445370.1:p.Ser358Cys
ENST00000469334.5:n.1713A>T
ENST00000476049.1:c.*1474A>T	ENSP00000463483.1:n.*1474A>T
ENST00000578044.5:c.916A>T	ENSP00000464511.1:p.Ser306Cys
ENST00000578112.5:c.*923A>T	ENSP00000464501.1:n.*923A>T
ENST00000580419.5:c.1021A>T	ENSP00000462475.1:p.Ser341Cys
NM_003079.4:c.1126A>T	NP_003070.3:p.Ser376Cys
NM_003079.5:c.1126A>T MANE Select	NP_003070.3:p.Ser376Cys