Canonical Allele Identifier: CA399360821

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 2564310
• ClinVar RCV Id: RCV003310808
• MyVariant Identifiers: chr17:g.38785066G>C (hg19) ; chr17:g.40628814G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628814G>C , CM000679.2:g.40628814G>C	GRCh38
NC_000017.10:g.38785066G>C , CM000679.1:g.38785066G>C	GRCh37
NC_000017.9:g.36038592G>C	NCBI36
NG_032163.1:g.24038C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*769C>G	ENSP00000466608.2:n.*769C>G
ENST00000348513.12:c.1207C>G MANE Select	ENSP00000323967.6:p.Pro403Ala
ENST00000377808.9:c.*194C>G	ENSP00000367039.4:n.*194C>G
ENST00000400122.8:c.*194C>G	ENSP00000411607.2:n.*194C>G
ENST00000469334.6:n.1805C>G
ENST00000578044.6:c.997C>G	ENSP00000464511.1:p.Pro333Ala
ENST00000578112.6:c.*1004C>G	ENSP00000464501.1:n.*1004C>G
ENST00000580419.6:c.*186C>G	ENSP00000462475.2:n.*186C>G
ENST00000642576.1:n.2350C>G
ENST00000643030.1:n.1830C>G
ENST00000643255.1:c.*3271C>G	ENSP00000493957.1:n.*3271C>G
ENST00000643318.1:c.997C>G	ENSP00000494771.1:p.Pro333Ala
ENST00000643378.1:n.1762C>G
ENST00000643683.1:c.1207C>G	ENSP00000496094.1:p.Pro403Ala
ENST00000643893.1:n.1500C>G
ENST00000644443.1:n.3095C>G
ENST00000644523.1:n.1253C>G
ENST00000644527.1:c.979C>G	ENSP00000493974.1:p.Pro327Ala
ENST00000644701.1:c.*194C>G	ENSP00000496097.1:n.*194C>G
ENST00000644909.1:c.*476C>G	ENSP00000493649.1:n.*476C>G
ENST00000645152.1:n.1870C>G
ENST00000645227.1:c.*895C>G	ENSP00000495021.1:n.*895C>G
ENST00000646242.1:n.7119C>G
ENST00000646283.1:c.1015C>G	ENSP00000494537.1:p.Pro339Ala
ENST00000646401.1:n.2573C>G
ENST00000646448.1:n.2481C>G
ENST00000646856.1:c.*1083C>G	ENSP00000494505.1:n.*1083C>G
ENST00000647294.1:c.*1137C>G	ENSP00000494815.1:n.*1137C>G
ENST00000647508.1:c.1102C>G	ENSP00000496445.1:p.Pro368Ala
ENST00000647515.1:c.*738C>G	ENSP00000495857.1:n.*738C>G
ENST00000348513.10:c.1207C>G	ENSP00000323967.6:p.Pro403Ala
ENST00000377808.8:c.*194C>G	ENSP00000367039.4:n.*194C>G
ENST00000400122.7:c.*194C>G	ENSP00000411607.2:n.*194C>G
ENST00000431889.6:c.1153C>G	ENSP00000445370.1:p.Pro385Ala
ENST00000469334.5:n.1794C>G
ENST00000476049.1:c.*1555C>G	ENSP00000463483.1:n.*1555C>G
ENST00000578044.5:c.997C>G	ENSP00000464511.1:p.Pro333Ala
ENST00000578112.5:c.*1004C>G	ENSP00000464501.1:n.*1004C>G
ENST00000580419.5:c.1102C>G	ENSP00000462475.1:p.Pro368Ala
NM_003079.4:c.1207C>G	NP_003070.3:p.Pro403Ala
NM_003079.5:c.1207C>G MANE Select	NP_003070.3:p.Pro403Ala