Canonical Allele Identifier: CA499962651

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1751304
• ClinVar RCV Id: RCV002358291
• MyVariant Identifiers: chr17:g.38785058T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628806T>C , CM000679.2:g.40628806T>C	GRCh38
NC_000017.10:g.38785058T>C , CM000679.1:g.38785058T>C	GRCh37
NC_000017.9:g.36038584T>C	NCBI36
NG_032163.1:g.24046A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*777A>G	ENSP00000466608.2:n.*777A>G
ENST00000348513.12:c.1215A>G MANE Select	ENSP00000323967.6:p.Pro405=
ENST00000377808.9:c.*202A>G	ENSP00000367039.4:n.*202A>G
ENST00000400122.8:c.*202A>G	ENSP00000411607.2:n.*202A>G
ENST00000469334.6:n.1813A>G
ENST00000578044.6:c.1005A>G	ENSP00000464511.1:p.Pro335=
ENST00000578112.6:c.*1012A>G	ENSP00000464501.1:n.*1012A>G
ENST00000580419.6:c.*194A>G	ENSP00000462475.2:n.*194A>G
ENST00000642576.1:n.2358A>G
ENST00000643030.1:n.1838A>G
ENST00000643255.1:c.*3279A>G	ENSP00000493957.1:n.*3279A>G
ENST00000643318.1:c.1005A>G	ENSP00000494771.1:p.Pro335=
ENST00000643378.1:n.1770A>G
ENST00000643683.1:c.1215A>G	ENSP00000496094.1:p.Pro405=
ENST00000643893.1:n.1508A>G
ENST00000644443.1:n.3103A>G
ENST00000644523.1:n.1261A>G
ENST00000644527.1:c.987A>G	ENSP00000493974.1:p.Pro329=
ENST00000644701.1:c.*202A>G	ENSP00000496097.1:n.*202A>G
ENST00000644909.1:c.*484A>G	ENSP00000493649.1:n.*484A>G
ENST00000645152.1:n.1878A>G
ENST00000645227.1:c.*903A>G	ENSP00000495021.1:n.*903A>G
ENST00000646242.1:n.7127A>G
ENST00000646283.1:c.1023A>G	ENSP00000494537.1:p.Pro341=
ENST00000646401.1:n.2581A>G
ENST00000646448.1:n.2489A>G
ENST00000646856.1:c.*1091A>G	ENSP00000494505.1:n.*1091A>G
ENST00000647294.1:c.*1145A>G	ENSP00000494815.1:n.*1145A>G
ENST00000647508.1:c.1110A>G	ENSP00000496445.1:p.Pro370=
ENST00000647515.1:c.*746A>G	ENSP00000495857.1:n.*746A>G
ENST00000348513.10:c.1215A>G	ENSP00000323967.6:p.Pro405=
ENST00000377808.8:c.*202A>G	ENSP00000367039.4:n.*202A>G
ENST00000400122.7:c.*202A>G	ENSP00000411607.2:n.*202A>G
ENST00000431889.6:c.1161A>G	ENSP00000445370.1:p.Pro387=
ENST00000469334.5:n.1802A>G
ENST00000476049.1:c.*1563A>G	ENSP00000463483.1:n.*1563A>G
ENST00000578044.5:c.1005A>G	ENSP00000464511.1:p.Pro335=
ENST00000578112.5:c.*1012A>G	ENSP00000464501.1:n.*1012A>G
ENST00000580419.5:c.1110A>G	ENSP00000462475.1:p.Pro370=
NM_003079.4:c.1215A>G	NP_003070.3:p.Pro405=
NM_003079.5:c.1215A>G MANE Select	NP_003070.3:p.Pro405=