Canonical Allele Identifier: CA399360983

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785095C>A (hg19) ; chr17:g.40628843C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628843C>A , CM000679.2:g.40628843C>A	GRCh38
NC_000017.10:g.38785095C>A , CM000679.1:g.38785095C>A	GRCh37
NC_000017.9:g.36038621C>A	NCBI36
NG_032163.1:g.24009G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*740G>T	ENSP00000466608.2:n.*740G>T
ENST00000348513.12:c.1178G>T MANE Select	ENSP00000323967.6:p.Ser393Ile
ENST00000377808.9:c.*165G>T	ENSP00000367039.4:n.*165G>T
ENST00000400122.8:c.*165G>T	ENSP00000411607.2:n.*165G>T
ENST00000469334.6:n.1776G>T
ENST00000578044.6:c.968G>T	ENSP00000464511.1:p.Ser323Ile
ENST00000578112.6:c.*975G>T	ENSP00000464501.1:n.*975G>T
ENST00000580419.6:c.*157G>T	ENSP00000462475.2:n.*157G>T
ENST00000642576.1:n.2321G>T
ENST00000643030.1:n.1801G>T
ENST00000643255.1:c.*3242G>T	ENSP00000493957.1:n.*3242G>T
ENST00000643318.1:c.968G>T	ENSP00000494771.1:p.Ser323Ile
ENST00000643378.1:n.1733G>T
ENST00000643683.1:c.1178G>T	ENSP00000496094.1:p.Ser393Ile
ENST00000643893.1:n.1471G>T
ENST00000644443.1:n.3066G>T
ENST00000644523.1:n.1224G>T
ENST00000644527.1:c.950G>T	ENSP00000493974.1:p.Ser317Ile
ENST00000644701.1:c.*165G>T	ENSP00000496097.1:n.*165G>T
ENST00000644909.1:c.*447G>T	ENSP00000493649.1:n.*447G>T
ENST00000645152.1:n.1841G>T
ENST00000645227.1:c.*866G>T	ENSP00000495021.1:n.*866G>T
ENST00000646242.1:n.7090G>T
ENST00000646283.1:c.986G>T	ENSP00000494537.1:p.Ser329Ile
ENST00000646401.1:n.2544G>T
ENST00000646448.1:n.2452G>T
ENST00000646856.1:c.*1054G>T	ENSP00000494505.1:n.*1054G>T
ENST00000647294.1:c.*1108G>T	ENSP00000494815.1:n.*1108G>T
ENST00000647508.1:c.1073G>T	ENSP00000496445.1:p.Ser358Ile
ENST00000647515.1:c.*709G>T	ENSP00000495857.1:n.*709G>T
ENST00000348513.10:c.1178G>T	ENSP00000323967.6:p.Ser393Ile
ENST00000377808.8:c.*165G>T	ENSP00000367039.4:n.*165G>T
ENST00000400122.7:c.*165G>T	ENSP00000411607.2:n.*165G>T
ENST00000431889.6:c.1124G>T	ENSP00000445370.1:p.Ser375Ile
ENST00000469334.5:n.1765G>T
ENST00000476049.1:c.*1526G>T	ENSP00000463483.1:n.*1526G>T
ENST00000578044.5:c.968G>T	ENSP00000464511.1:p.Ser323Ile
ENST00000578112.5:c.*975G>T	ENSP00000464501.1:n.*975G>T
ENST00000580419.5:c.1073G>T	ENSP00000462475.1:p.Ser358Ile
NM_003079.4:c.1178G>T	NP_003070.3:p.Ser393Ile
NM_003079.5:c.1178G>T MANE Select	NP_003070.3:p.Ser393Ile