Canonical Allele Identifier: CA399360703

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785044T>A (hg19) ; chr17:g.40628792T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628792T>A , CM000679.2:g.40628792T>A	GRCh38
NC_000017.10:g.38785044T>A , CM000679.1:g.38785044T>A	GRCh37
NC_000017.9:g.36038570T>A	NCBI36
NG_032163.1:g.24060A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*791A>T	ENSP00000466608.2:n.*791A>T
ENST00000348513.12:c.1229A>T MANE Select	ENSP00000323967.6:p.Lys410Ile
ENST00000377808.9:c.*216A>T	ENSP00000367039.4:n.*216A>T
ENST00000400122.8:c.*216A>T	ENSP00000411607.2:n.*216A>T
ENST00000469334.6:n.1827A>T
ENST00000578044.6:c.1019A>T	ENSP00000464511.1:p.Lys340Ile
ENST00000578112.6:c.*1026A>T	ENSP00000464501.1:n.*1026A>T
ENST00000580419.6:c.*208A>T	ENSP00000462475.2:n.*208A>T
ENST00000642576.1:n.2372A>T
ENST00000643030.1:n.1852A>T
ENST00000643255.1:c.*3293A>T	ENSP00000493957.1:n.*3293A>T
ENST00000643318.1:c.1019A>T	ENSP00000494771.1:p.Lys340Ile
ENST00000643378.1:n.1784A>T
ENST00000643683.1:c.1229A>T	ENSP00000496094.1:p.Lys410Ile
ENST00000643893.1:n.1522A>T
ENST00000644443.1:n.3117A>T
ENST00000644523.1:n.1275A>T
ENST00000644527.1:c.1001A>T	ENSP00000493974.1:p.Lys334Ile
ENST00000644701.1:c.*216A>T	ENSP00000496097.1:n.*216A>T
ENST00000644909.1:c.*498A>T	ENSP00000493649.1:n.*498A>T
ENST00000645152.1:n.1892A>T
ENST00000645227.1:c.*917A>T	ENSP00000495021.1:n.*917A>T
ENST00000646242.1:n.7141A>T
ENST00000646283.1:c.1037A>T	ENSP00000494537.1:p.Lys346Ile
ENST00000646401.1:n.2595A>T
ENST00000646448.1:n.2503A>T
ENST00000646856.1:c.*1105A>T	ENSP00000494505.1:n.*1105A>T
ENST00000647294.1:c.*1159A>T	ENSP00000494815.1:n.*1159A>T
ENST00000647508.1:c.1124A>T	ENSP00000496445.1:p.Lys375Ile
ENST00000647515.1:c.*760A>T	ENSP00000495857.1:n.*760A>T
ENST00000348513.10:c.1229A>T	ENSP00000323967.6:p.Lys410Ile
ENST00000377808.8:c.*216A>T	ENSP00000367039.4:n.*216A>T
ENST00000400122.7:c.*216A>T	ENSP00000411607.2:n.*216A>T
ENST00000431889.6:c.1175A>T	ENSP00000445370.1:p.Lys392Ile
ENST00000469334.5:n.1816A>T
ENST00000578044.5:c.1019A>T	ENSP00000464511.1:p.Lys340Ile
ENST00000578112.5:c.*1026A>T	ENSP00000464501.1:n.*1026A>T
ENST00000580419.5:c.1124A>T	ENSP00000462475.1:p.Lys375Ile
NM_003079.4:c.1229A>T	NP_003070.3:p.Lys410Ile
NM_003079.5:c.1229A>T MANE Select	NP_003070.3:p.Lys410Ile