Canonical Allele Identifier: CA399361180

Gene: SMARCE1

Linked Data

• gnomAD v4: 17-40628880-C-T
• MyVariant Identifiers: chr17:g.38785132C>T (hg19) ; chr17:g.40628880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628880C>T , CM000679.2:g.40628880C>T	GRCh38
NC_000017.10:g.38785132C>T , CM000679.1:g.38785132C>T	GRCh37
NC_000017.9:g.36038658C>T	NCBI36
NG_032163.1:g.23972G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*703G>A	ENSP00000466608.2:n.*703G>A
ENST00000348513.12:c.1141G>A MANE Select	ENSP00000323967.6:p.Gly381Arg
ENST00000377808.9:c.*128G>A	ENSP00000367039.4:n.*128G>A
ENST00000400122.8:c.*128G>A	ENSP00000411607.2:n.*128G>A
ENST00000469334.6:n.1739G>A
ENST00000578044.6:c.931G>A	ENSP00000464511.1:p.Gly311Arg
ENST00000578112.6:c.*938G>A	ENSP00000464501.1:n.*938G>A
ENST00000580419.6:c.*120G>A	ENSP00000462475.2:n.*120G>A
ENST00000642576.1:n.2284G>A
ENST00000643030.1:n.1764G>A
ENST00000643255.1:c.*3205G>A	ENSP00000493957.1:n.*3205G>A
ENST00000643318.1:c.931G>A	ENSP00000494771.1:p.Gly311Arg
ENST00000643378.1:n.1696G>A
ENST00000643683.1:c.1141G>A	ENSP00000496094.1:p.Gly381Arg
ENST00000643893.1:n.1434G>A
ENST00000644443.1:n.3029G>A
ENST00000644523.1:n.1187G>A
ENST00000644527.1:c.913G>A	ENSP00000493974.1:p.Gly305Arg
ENST00000644701.1:c.*128G>A	ENSP00000496097.1:n.*128G>A
ENST00000644909.1:c.*410G>A	ENSP00000493649.1:n.*410G>A
ENST00000645152.1:n.1804G>A
ENST00000645227.1:c.*829G>A	ENSP00000495021.1:n.*829G>A
ENST00000646242.1:n.7053G>A
ENST00000646283.1:c.949G>A	ENSP00000494537.1:p.Gly317Arg
ENST00000646401.1:n.2507G>A
ENST00000646448.1:n.2415G>A
ENST00000646856.1:c.*1017G>A	ENSP00000494505.1:n.*1017G>A
ENST00000647294.1:c.*1071G>A	ENSP00000494815.1:n.*1071G>A
ENST00000647508.1:c.1036G>A	ENSP00000496445.1:p.Gly346Arg
ENST00000647515.1:c.*672G>A	ENSP00000495857.1:n.*672G>A
ENST00000348513.10:c.1141G>A	ENSP00000323967.6:p.Gly381Arg
ENST00000377808.8:c.*128G>A	ENSP00000367039.4:n.*128G>A
ENST00000400122.7:c.*128G>A	ENSP00000411607.2:n.*128G>A
ENST00000431889.6:c.1087G>A	ENSP00000445370.1:p.Gly363Arg
ENST00000469334.5:n.1728G>A
ENST00000476049.1:c.*1489G>A	ENSP00000463483.1:n.*1489G>A
ENST00000578044.5:c.931G>A	ENSP00000464511.1:p.Gly311Arg
ENST00000578112.5:c.*938G>A	ENSP00000464501.1:n.*938G>A
ENST00000580419.5:c.1036G>A	ENSP00000462475.1:p.Gly346Arg
NM_003079.4:c.1141G>A	NP_003070.3:p.Gly381Arg
NM_003079.5:c.1141G>A MANE Select	NP_003070.3:p.Gly381Arg