Canonical Allele Identifier: CA399361012

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1037713
• ClinVar RCV Id: RCV001340906
• dbSNP Id: rs2037060809
• MyVariant Identifiers: chr17:g.38785099T>C (hg19) ; chr17:g.40628847T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628847T>C , CM000679.2:g.40628847T>C	GRCh38
NC_000017.10:g.38785099T>C , CM000679.1:g.38785099T>C	GRCh37
NC_000017.9:g.36038625T>C	NCBI36
NG_032163.1:g.24005A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*736A>G	ENSP00000466608.2:n.*736A>G
ENST00000348513.12:c.1174A>G MANE Select	ENSP00000323967.6:p.Asn392Asp
ENST00000377808.9:c.*161A>G	ENSP00000367039.4:n.*161A>G
ENST00000400122.8:c.*161A>G	ENSP00000411607.2:n.*161A>G
ENST00000469334.6:n.1772A>G
ENST00000578044.6:c.964A>G	ENSP00000464511.1:p.Asn322Asp
ENST00000578112.6:c.*971A>G	ENSP00000464501.1:n.*971A>G
ENST00000580419.6:c.*153A>G	ENSP00000462475.2:n.*153A>G
ENST00000642576.1:n.2317A>G
ENST00000643030.1:n.1797A>G
ENST00000643255.1:c.*3238A>G	ENSP00000493957.1:n.*3238A>G
ENST00000643318.1:c.964A>G	ENSP00000494771.1:p.Asn322Asp
ENST00000643378.1:n.1729A>G
ENST00000643683.1:c.1174A>G	ENSP00000496094.1:p.Asn392Asp
ENST00000643893.1:n.1467A>G
ENST00000644443.1:n.3062A>G
ENST00000644523.1:n.1220A>G
ENST00000644527.1:c.946A>G	ENSP00000493974.1:p.Asn316Asp
ENST00000644701.1:c.*161A>G	ENSP00000496097.1:n.*161A>G
ENST00000644909.1:c.*443A>G	ENSP00000493649.1:n.*443A>G
ENST00000645152.1:n.1837A>G
ENST00000645227.1:c.*862A>G	ENSP00000495021.1:n.*862A>G
ENST00000646242.1:n.7086A>G
ENST00000646283.1:c.982A>G	ENSP00000494537.1:p.Asn328Asp
ENST00000646401.1:n.2540A>G
ENST00000646448.1:n.2448A>G
ENST00000646856.1:c.*1050A>G	ENSP00000494505.1:n.*1050A>G
ENST00000647294.1:c.*1104A>G	ENSP00000494815.1:n.*1104A>G
ENST00000647508.1:c.1069A>G	ENSP00000496445.1:p.Asn357Asp
ENST00000647515.1:c.*705A>G	ENSP00000495857.1:n.*705A>G
ENST00000348513.10:c.1174A>G	ENSP00000323967.6:p.Asn392Asp
ENST00000377808.8:c.*161A>G	ENSP00000367039.4:n.*161A>G
ENST00000400122.7:c.*161A>G	ENSP00000411607.2:n.*161A>G
ENST00000431889.6:c.1120A>G	ENSP00000445370.1:p.Asn374Asp
ENST00000469334.5:n.1761A>G
ENST00000476049.1:c.*1522A>G	ENSP00000463483.1:n.*1522A>G
ENST00000578044.5:c.964A>G	ENSP00000464511.1:p.Asn322Asp
ENST00000578112.5:c.*971A>G	ENSP00000464501.1:n.*971A>G
ENST00000580419.5:c.1069A>G	ENSP00000462475.1:p.Asn357Asp
NM_003079.4:c.1174A>G	NP_003070.3:p.Asn392Asp
NM_003079.5:c.1174A>G MANE Select	NP_003070.3:p.Asn392Asp