Canonical Allele Identifier: CA8545049

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 486513
• ClinVar RCV Id: RCV000569405 ; RCV000638938 ; RCV003962638
• dbSNP Id: rs377096761
• ExAC: 17:38785100 G / A
• gnomAD v2: 17-38785100-G-A
• gnomAD v3: 17-40628848-G-A
• gnomAD v4: 17-40628848-G-A
• MyVariant Identifiers: chr17:g.38785100G>A (hg19) ; chr17:g.40628848G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628848G>A , CM000679.2:g.40628848G>A	GRCh38
NC_000017.10:g.38785100G>A , CM000679.1:g.38785100G>A	GRCh37
NC_000017.9:g.36038626G>A	NCBI36
NG_032163.1:g.24004C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*735C>T	ENSP00000466608.2:n.*735C>T
ENST00000348513.12:c.1173C>T MANE Select	ENSP00000323967.6:p.Ser391=
ENST00000377808.9:c.*160C>T	ENSP00000367039.4:n.*160C>T
ENST00000400122.8:c.*160C>T	ENSP00000411607.2:n.*160C>T
ENST00000469334.6:n.1771C>T
ENST00000578044.6:c.963C>T	ENSP00000464511.1:p.Ser321=
ENST00000578112.6:c.*970C>T	ENSP00000464501.1:n.*970C>T
ENST00000580419.6:c.*152C>T	ENSP00000462475.2:n.*152C>T
ENST00000642576.1:n.2316C>T
ENST00000643030.1:n.1796C>T
ENST00000643255.1:c.*3237C>T	ENSP00000493957.1:n.*3237C>T
ENST00000643318.1:c.963C>T	ENSP00000494771.1:p.Ser321=
ENST00000643378.1:n.1728C>T
ENST00000643683.1:c.1173C>T	ENSP00000496094.1:p.Ser391=
ENST00000643893.1:n.1466C>T
ENST00000644443.1:n.3061C>T
ENST00000644523.1:n.1219C>T
ENST00000644527.1:c.945C>T	ENSP00000493974.1:p.Ser315=
ENST00000644701.1:c.*160C>T	ENSP00000496097.1:n.*160C>T
ENST00000644909.1:c.*442C>T	ENSP00000493649.1:n.*442C>T
ENST00000645152.1:n.1836C>T
ENST00000645227.1:c.*861C>T	ENSP00000495021.1:n.*861C>T
ENST00000646242.1:n.7085C>T
ENST00000646283.1:c.981C>T	ENSP00000494537.1:p.Ser327=
ENST00000646401.1:n.2539C>T
ENST00000646448.1:n.2447C>T
ENST00000646856.1:c.*1049C>T	ENSP00000494505.1:n.*1049C>T
ENST00000647294.1:c.*1103C>T	ENSP00000494815.1:n.*1103C>T
ENST00000647508.1:c.1068C>T	ENSP00000496445.1:p.Ser356=
ENST00000647515.1:c.*704C>T	ENSP00000495857.1:n.*704C>T
ENST00000348513.10:c.1173C>T	ENSP00000323967.6:p.Ser391=
ENST00000377808.8:c.*160C>T	ENSP00000367039.4:n.*160C>T
ENST00000400122.7:c.*160C>T	ENSP00000411607.2:n.*160C>T
ENST00000431889.6:c.1119C>T	ENSP00000445370.1:p.Ser373=
ENST00000469334.5:n.1760C>T
ENST00000476049.1:c.*1521C>T	ENSP00000463483.1:n.*1521C>T
ENST00000578044.5:c.963C>T	ENSP00000464511.1:p.Ser321=
ENST00000578112.5:c.*970C>T	ENSP00000464501.1:n.*970C>T
ENST00000580419.5:c.1068C>T	ENSP00000462475.1:p.Ser356=
NM_003079.4:c.1173C>T	NP_003070.3:p.Ser391=
NM_003079.5:c.1173C>T MANE Select	NP_003070.3:p.Ser391=