Canonical Allele Identifier: CA399361024

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 949118
• ClinVar RCV Id: RCV001220510
• dbSNP Id: rs1298633600
• MyVariant Identifiers: chr17:g.38785101C>G (hg19) ; chr17:g.40628849C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628849C>G , CM000679.2:g.40628849C>G	GRCh38
NC_000017.10:g.38785101C>G , CM000679.1:g.38785101C>G	GRCh37
NC_000017.9:g.36038627C>G	NCBI36
NG_032163.1:g.24003G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*734G>C	ENSP00000466608.2:n.*734G>C
ENST00000348513.12:c.1172G>C MANE Select	ENSP00000323967.6:p.Ser391Thr
ENST00000377808.9:c.*159G>C	ENSP00000367039.4:n.*159G>C
ENST00000400122.8:c.*159G>C	ENSP00000411607.2:n.*159G>C
ENST00000469334.6:n.1770G>C
ENST00000578044.6:c.962G>C	ENSP00000464511.1:p.Ser321Thr
ENST00000578112.6:c.*969G>C	ENSP00000464501.1:n.*969G>C
ENST00000580419.6:c.*151G>C	ENSP00000462475.2:n.*151G>C
ENST00000642576.1:n.2315G>C
ENST00000643030.1:n.1795G>C
ENST00000643255.1:c.*3236G>C	ENSP00000493957.1:n.*3236G>C
ENST00000643318.1:c.962G>C	ENSP00000494771.1:p.Ser321Thr
ENST00000643378.1:n.1727G>C
ENST00000643683.1:c.1172G>C	ENSP00000496094.1:p.Ser391Thr
ENST00000643893.1:n.1465G>C
ENST00000644443.1:n.3060G>C
ENST00000644523.1:n.1218G>C
ENST00000644527.1:c.944G>C	ENSP00000493974.1:p.Ser315Thr
ENST00000644701.1:c.*159G>C	ENSP00000496097.1:n.*159G>C
ENST00000644909.1:c.*441G>C	ENSP00000493649.1:n.*441G>C
ENST00000645152.1:n.1835G>C
ENST00000645227.1:c.*860G>C	ENSP00000495021.1:n.*860G>C
ENST00000646242.1:n.7084G>C
ENST00000646283.1:c.980G>C	ENSP00000494537.1:p.Ser327Thr
ENST00000646401.1:n.2538G>C
ENST00000646448.1:n.2446G>C
ENST00000646856.1:c.*1048G>C	ENSP00000494505.1:n.*1048G>C
ENST00000647294.1:c.*1102G>C	ENSP00000494815.1:n.*1102G>C
ENST00000647508.1:c.1067G>C	ENSP00000496445.1:p.Ser356Thr
ENST00000647515.1:c.*703G>C	ENSP00000495857.1:n.*703G>C
ENST00000348513.10:c.1172G>C	ENSP00000323967.6:p.Ser391Thr
ENST00000377808.8:c.*159G>C	ENSP00000367039.4:n.*159G>C
ENST00000400122.7:c.*159G>C	ENSP00000411607.2:n.*159G>C
ENST00000431889.6:c.1118G>C	ENSP00000445370.1:p.Ser373Thr
ENST00000469334.5:n.1759G>C
ENST00000476049.1:c.*1520G>C	ENSP00000463483.1:n.*1520G>C
ENST00000578044.5:c.962G>C	ENSP00000464511.1:p.Ser321Thr
ENST00000578112.5:c.*969G>C	ENSP00000464501.1:n.*969G>C
ENST00000580419.5:c.1067G>C	ENSP00000462475.1:p.Ser356Thr
NM_003079.4:c.1172G>C	NP_003070.3:p.Ser391Thr
NM_003079.5:c.1172G>C MANE Select	NP_003070.3:p.Ser391Thr