Canonical Allele Identifier: CA399361170

Gene: SMARCE1

Linked Data

• MyVariant Identifiers: chr17:g.38785131C>A (hg19) ; chr17:g.40628879C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628879C>A , CM000679.2:g.40628879C>A	GRCh38
NC_000017.10:g.38785131C>A , CM000679.1:g.38785131C>A	GRCh37
NC_000017.9:g.36038657C>A	NCBI36
NG_032163.1:g.23973G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*704G>T	ENSP00000466608.2:n.*704G>T
ENST00000348513.12:c.1142G>T MANE Select	ENSP00000323967.6:p.Gly381Val
ENST00000377808.9:c.*129G>T	ENSP00000367039.4:n.*129G>T
ENST00000400122.8:c.*129G>T	ENSP00000411607.2:n.*129G>T
ENST00000469334.6:n.1740G>T
ENST00000578044.6:c.932G>T	ENSP00000464511.1:p.Gly311Val
ENST00000578112.6:c.*939G>T	ENSP00000464501.1:n.*939G>T
ENST00000580419.6:c.*121G>T	ENSP00000462475.2:n.*121G>T
ENST00000642576.1:n.2285G>T
ENST00000643030.1:n.1765G>T
ENST00000643255.1:c.*3206G>T	ENSP00000493957.1:n.*3206G>T
ENST00000643318.1:c.932G>T	ENSP00000494771.1:p.Gly311Val
ENST00000643378.1:n.1697G>T
ENST00000643683.1:c.1142G>T	ENSP00000496094.1:p.Gly381Val
ENST00000643893.1:n.1435G>T
ENST00000644443.1:n.3030G>T
ENST00000644523.1:n.1188G>T
ENST00000644527.1:c.914G>T	ENSP00000493974.1:p.Gly305Val
ENST00000644701.1:c.*129G>T	ENSP00000496097.1:n.*129G>T
ENST00000644909.1:c.*411G>T	ENSP00000493649.1:n.*411G>T
ENST00000645152.1:n.1805G>T
ENST00000645227.1:c.*830G>T	ENSP00000495021.1:n.*830G>T
ENST00000646242.1:n.7054G>T
ENST00000646283.1:c.950G>T	ENSP00000494537.1:p.Gly317Val
ENST00000646401.1:n.2508G>T
ENST00000646448.1:n.2416G>T
ENST00000646856.1:c.*1018G>T	ENSP00000494505.1:n.*1018G>T
ENST00000647294.1:c.*1072G>T	ENSP00000494815.1:n.*1072G>T
ENST00000647508.1:c.1037G>T	ENSP00000496445.1:p.Gly346Val
ENST00000647515.1:c.*673G>T	ENSP00000495857.1:n.*673G>T
ENST00000348513.10:c.1142G>T	ENSP00000323967.6:p.Gly381Val
ENST00000377808.8:c.*129G>T	ENSP00000367039.4:n.*129G>T
ENST00000400122.7:c.*129G>T	ENSP00000411607.2:n.*129G>T
ENST00000431889.6:c.1088G>T	ENSP00000445370.1:p.Gly363Val
ENST00000469334.5:n.1729G>T
ENST00000476049.1:c.*1490G>T	ENSP00000463483.1:n.*1490G>T
ENST00000578044.5:c.932G>T	ENSP00000464511.1:p.Gly311Val
ENST00000578112.5:c.*939G>T	ENSP00000464501.1:n.*939G>T
ENST00000580419.5:c.1037G>T	ENSP00000462475.1:p.Gly346Val
NM_003079.4:c.1142G>T	NP_003070.3:p.Gly381Val
NM_003079.5:c.1142G>T MANE Select	NP_003070.3:p.Gly381Val