Canonical Allele Identifier: CA399361107

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 532239
• ClinVar RCV Id: RCV000638916
• dbSNP Id: rs1555605077
• gnomAD v4: 17-40628865-T-C
• MyVariant Identifiers: chr17:g.38785117T>C (hg19) ; chr17:g.40628865T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628865T>C , CM000679.2:g.40628865T>C	GRCh38
NC_000017.10:g.38785117T>C , CM000679.1:g.38785117T>C	GRCh37
NC_000017.9:g.36038643T>C	NCBI36
NG_032163.1:g.23987A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*718A>G	ENSP00000466608.2:n.*718A>G
ENST00000348513.12:c.1156A>G MANE Select	ENSP00000323967.6:p.Asn386Asp
ENST00000377808.9:c.*143A>G	ENSP00000367039.4:n.*143A>G
ENST00000400122.8:c.*143A>G	ENSP00000411607.2:n.*143A>G
ENST00000469334.6:n.1754A>G
ENST00000578044.6:c.946A>G	ENSP00000464511.1:p.Asn316Asp
ENST00000578112.6:c.*953A>G	ENSP00000464501.1:n.*953A>G
ENST00000580419.6:c.*135A>G	ENSP00000462475.2:n.*135A>G
ENST00000642576.1:n.2299A>G
ENST00000643030.1:n.1779A>G
ENST00000643255.1:c.*3220A>G	ENSP00000493957.1:n.*3220A>G
ENST00000643318.1:c.946A>G	ENSP00000494771.1:p.Asn316Asp
ENST00000643378.1:n.1711A>G
ENST00000643683.1:c.1156A>G	ENSP00000496094.1:p.Asn386Asp
ENST00000643893.1:n.1449A>G
ENST00000644443.1:n.3044A>G
ENST00000644523.1:n.1202A>G
ENST00000644527.1:c.928A>G	ENSP00000493974.1:p.Asn310Asp
ENST00000644701.1:c.*143A>G	ENSP00000496097.1:n.*143A>G
ENST00000644909.1:c.*425A>G	ENSP00000493649.1:n.*425A>G
ENST00000645152.1:n.1819A>G
ENST00000645227.1:c.*844A>G	ENSP00000495021.1:n.*844A>G
ENST00000646242.1:n.7068A>G
ENST00000646283.1:c.964A>G	ENSP00000494537.1:p.Asn322Asp
ENST00000646401.1:n.2522A>G
ENST00000646448.1:n.2430A>G
ENST00000646856.1:c.*1032A>G	ENSP00000494505.1:n.*1032A>G
ENST00000647294.1:c.*1086A>G	ENSP00000494815.1:n.*1086A>G
ENST00000647508.1:c.1051A>G	ENSP00000496445.1:p.Asn351Asp
ENST00000647515.1:c.*687A>G	ENSP00000495857.1:n.*687A>G
ENST00000348513.10:c.1156A>G	ENSP00000323967.6:p.Asn386Asp
ENST00000377808.8:c.*143A>G	ENSP00000367039.4:n.*143A>G
ENST00000400122.7:c.*143A>G	ENSP00000411607.2:n.*143A>G
ENST00000431889.6:c.1102A>G	ENSP00000445370.1:p.Asn368Asp
ENST00000469334.5:n.1743A>G
ENST00000476049.1:c.*1504A>G	ENSP00000463483.1:n.*1504A>G
ENST00000578044.5:c.946A>G	ENSP00000464511.1:p.Asn316Asp
ENST00000578112.5:c.*953A>G	ENSP00000464501.1:n.*953A>G
ENST00000580419.5:c.1051A>G	ENSP00000462475.1:p.Asn351Asp
NM_003079.4:c.1156A>G	NP_003070.3:p.Asn386Asp
NM_003079.5:c.1156A>G MANE Select	NP_003070.3:p.Asn386Asp