Canonical Allele Identifier: CA8545053

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1403668
• ClinVar RCV Id: RCV001909170
• dbSNP Id: rs758595837
• ExAC: 17:38785108 A / G
• gnomAD v2: 17-38785108-A-G
• gnomAD v4: 17-40628856-A-G
• MyVariant Identifiers: chr17:g.38785108A>G (hg19) ; chr17:g.40628856A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628856A>G , CM000679.2:g.40628856A>G	GRCh38
NC_000017.10:g.38785108A>G , CM000679.1:g.38785108A>G	GRCh37
NC_000017.9:g.36038634A>G	NCBI36
NG_032163.1:g.23996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*727T>C	ENSP00000466608.2:n.*727T>C
ENST00000348513.12:c.1165T>C MANE Select	ENSP00000323967.6:p.Ser389Pro
ENST00000377808.9:c.*152T>C	ENSP00000367039.4:n.*152T>C
ENST00000400122.8:c.*152T>C	ENSP00000411607.2:n.*152T>C
ENST00000469334.6:n.1763T>C
ENST00000578044.6:c.955T>C	ENSP00000464511.1:p.Ser319Pro
ENST00000578112.6:c.*962T>C	ENSP00000464501.1:n.*962T>C
ENST00000580419.6:c.*144T>C	ENSP00000462475.2:n.*144T>C
ENST00000642576.1:n.2308T>C
ENST00000643030.1:n.1788T>C
ENST00000643255.1:c.*3229T>C	ENSP00000493957.1:n.*3229T>C
ENST00000643318.1:c.955T>C	ENSP00000494771.1:p.Ser319Pro
ENST00000643378.1:n.1720T>C
ENST00000643683.1:c.1165T>C	ENSP00000496094.1:p.Ser389Pro
ENST00000643893.1:n.1458T>C
ENST00000644443.1:n.3053T>C
ENST00000644523.1:n.1211T>C
ENST00000644527.1:c.937T>C	ENSP00000493974.1:p.Ser313Pro
ENST00000644701.1:c.*152T>C	ENSP00000496097.1:n.*152T>C
ENST00000644909.1:c.*434T>C	ENSP00000493649.1:n.*434T>C
ENST00000645152.1:n.1828T>C
ENST00000645227.1:c.*853T>C	ENSP00000495021.1:n.*853T>C
ENST00000646242.1:n.7077T>C
ENST00000646283.1:c.973T>C	ENSP00000494537.1:p.Ser325Pro
ENST00000646401.1:n.2531T>C
ENST00000646448.1:n.2439T>C
ENST00000646856.1:c.*1041T>C	ENSP00000494505.1:n.*1041T>C
ENST00000647294.1:c.*1095T>C	ENSP00000494815.1:n.*1095T>C
ENST00000647508.1:c.1060T>C	ENSP00000496445.1:p.Ser354Pro
ENST00000647515.1:c.*696T>C	ENSP00000495857.1:n.*696T>C
ENST00000348513.10:c.1165T>C	ENSP00000323967.6:p.Ser389Pro
ENST00000377808.8:c.*152T>C	ENSP00000367039.4:n.*152T>C
ENST00000400122.7:c.*152T>C	ENSP00000411607.2:n.*152T>C
ENST00000431889.6:c.1111T>C	ENSP00000445370.1:p.Ser371Pro
ENST00000469334.5:n.1752T>C
ENST00000476049.1:c.*1513T>C	ENSP00000463483.1:n.*1513T>C
ENST00000578044.5:c.955T>C	ENSP00000464511.1:p.Ser319Pro
ENST00000578112.5:c.*962T>C	ENSP00000464501.1:n.*962T>C
ENST00000580419.5:c.1060T>C	ENSP00000462475.1:p.Ser354Pro
NM_003079.4:c.1165T>C	NP_003070.3:p.Ser389Pro
NM_003079.5:c.1165T>C MANE Select	NP_003070.3:p.Ser389Pro