Canonical Allele Identifier: CA399361055

Gene: SMARCE1

Linked Data

• ClinVar Variation Id: 1043383
• ClinVar RCV Id: RCV001347486
• dbSNP Id: rs376181802
• gnomAD v4: 17-40628855-G-C
• MyVariant Identifiers: chr17:g.38785107G>C (hg19) ; chr17:g.40628855G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628855G>C , CM000679.2:g.40628855G>C	GRCh38
NC_000017.10:g.38785107G>C , CM000679.1:g.38785107G>C	GRCh37
NC_000017.9:g.36038633G>C	NCBI36
NG_032163.1:g.23997C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264640.9:c.*728C>G	ENSP00000466608.2:n.*728C>G
ENST00000348513.12:c.1166C>G MANE Select	ENSP00000323967.6:p.Ser389Trp
ENST00000377808.9:c.*153C>G	ENSP00000367039.4:n.*153C>G
ENST00000400122.8:c.*153C>G	ENSP00000411607.2:n.*153C>G
ENST00000469334.6:n.1764C>G
ENST00000578044.6:c.956C>G	ENSP00000464511.1:p.Ser319Trp
ENST00000578112.6:c.*963C>G	ENSP00000464501.1:n.*963C>G
ENST00000580419.6:c.*145C>G	ENSP00000462475.2:n.*145C>G
ENST00000642576.1:n.2309C>G
ENST00000643030.1:n.1789C>G
ENST00000643255.1:c.*3230C>G	ENSP00000493957.1:n.*3230C>G
ENST00000643318.1:c.956C>G	ENSP00000494771.1:p.Ser319Trp
ENST00000643378.1:n.1721C>G
ENST00000643683.1:c.1166C>G	ENSP00000496094.1:p.Ser389Trp
ENST00000643893.1:n.1459C>G
ENST00000644443.1:n.3054C>G
ENST00000644523.1:n.1212C>G
ENST00000644527.1:c.938C>G	ENSP00000493974.1:p.Ser313Trp
ENST00000644701.1:c.*153C>G	ENSP00000496097.1:n.*153C>G
ENST00000644909.1:c.*435C>G	ENSP00000493649.1:n.*435C>G
ENST00000645152.1:n.1829C>G
ENST00000645227.1:c.*854C>G	ENSP00000495021.1:n.*854C>G
ENST00000646242.1:n.7078C>G
ENST00000646283.1:c.974C>G	ENSP00000494537.1:p.Ser325Trp
ENST00000646401.1:n.2532C>G
ENST00000646448.1:n.2440C>G
ENST00000646856.1:c.*1042C>G	ENSP00000494505.1:n.*1042C>G
ENST00000647294.1:c.*1096C>G	ENSP00000494815.1:n.*1096C>G
ENST00000647508.1:c.1061C>G	ENSP00000496445.1:p.Ser354Trp
ENST00000647515.1:c.*697C>G	ENSP00000495857.1:n.*697C>G
ENST00000348513.10:c.1166C>G	ENSP00000323967.6:p.Ser389Trp
ENST00000377808.8:c.*153C>G	ENSP00000367039.4:n.*153C>G
ENST00000400122.7:c.*153C>G	ENSP00000411607.2:n.*153C>G
ENST00000431889.6:c.1112C>G	ENSP00000445370.1:p.Ser371Trp
ENST00000469334.5:n.1753C>G
ENST00000476049.1:c.*1514C>G	ENSP00000463483.1:n.*1514C>G
ENST00000578044.5:c.956C>G	ENSP00000464511.1:p.Ser319Trp
ENST00000578112.5:c.*963C>G	ENSP00000464501.1:n.*963C>G
ENST00000580419.5:c.1061C>G	ENSP00000462475.1:p.Ser354Trp
NM_003079.4:c.1166C>G	NP_003070.3:p.Ser389Trp
NM_003079.5:c.1166C>G MANE Select	NP_003070.3:p.Ser389Trp