Canonical Allele Identifier: CA8545039

Gene: SMARCE1

Linked Data

• dbSNP Id: rs771369108
• ExAC: 17:38785033 A / C
• gnomAD v2: 17-38785033-A-C
• gnomAD v4: 17-40628781-A-C
• MyVariant Identifiers: chr17:g.38785033A>C (hg19) ; chr17:g.40628781A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40628781A>C , CM000679.2:g.40628781A>C	GRCh38
NC_000017.10:g.38785033A>C , CM000679.1:g.38785033A>C	GRCh37
NC_000017.9:g.36038559A>C	NCBI36
NG_032163.1:g.24071T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000264640.9:c.*802T>G	ENSP00000466608.2:n.*802T>G
ENST00000348513.12:c.*4T>G MANE Select	ENSP00000323967.6:n.*4T>G
ENST00000377808.9:c.*227T>G	ENSP00000367039.4:n.*227T>G
ENST00000400122.8:c.*227T>G	ENSP00000411607.2:n.*227T>G
ENST00000469334.6:n.1838T>G
ENST00000578112.6:c.*1037T>G	ENSP00000464501.1:n.*1037T>G
ENST00000580419.6:c.*219T>G	ENSP00000462475.2:n.*219T>G
ENST00000642576.1:n.2383T>G
ENST00000643030.1:n.1863T>G
ENST00000643255.1:c.*3304T>G	ENSP00000493957.1:n.*3304T>G
ENST00000643318.1:c.*4T>G	ENSP00000494771.1:n.*4T>G
ENST00000643378.1:n.1795T>G
ENST00000643683.1:c.*4T>G	ENSP00000496094.1:n.*4T>G
ENST00000643893.1:n.1533T>G
ENST00000644443.1:n.3128T>G
ENST00000644523.1:n.1286T>G
ENST00000644527.1:c.*4T>G	ENSP00000493974.1:n.*4T>G
ENST00000644701.1:c.*227T>G	ENSP00000496097.1:n.*227T>G
ENST00000644909.1:c.*509T>G	ENSP00000493649.1:n.*509T>G
ENST00000645152.1:n.1903T>G
ENST00000645227.1:c.*928T>G	ENSP00000495021.1:n.*928T>G
ENST00000646242.1:n.7152T>G
ENST00000646283.1:c.*4T>G	ENSP00000494537.1:n.*4T>G
ENST00000646401.1:n.2606T>G
ENST00000646448.1:n.2514T>G
ENST00000646856.1:c.*1116T>G	ENSP00000494505.1:n.*1116T>G
ENST00000647294.1:c.*1170T>G	ENSP00000494815.1:n.*1170T>G
ENST00000647508.1:c.*4T>G	ENSP00000496445.1:n.*4T>G
ENST00000647515.1:c.*771T>G	ENSP00000495857.1:n.*771T>G
ENST00000348513.10:c.*4T>G	ENSP00000323967.6:n.*4T>G
ENST00000377808.8:c.*227T>G	ENSP00000367039.4:n.*227T>G
ENST00000400122.7:c.*227T>G	ENSP00000411607.2:n.*227T>G
ENST00000431889.6:c.*4T>G	ENSP00000445370.1:n.*4T>G
ENST00000469334.5:n.1827T>G
ENST00000578044.5:c.*4T>G	ENSP00000464511.1:n.*4T>G
ENST00000578112.5:c.*1037T>G	ENSP00000464501.1:n.*1037T>G
ENST00000580419.5:c.*4T>G	ENSP00000462475.1:n.*4T>G
NM_003079.4:c.*4T>G	NP_003070.3:n.*4T>G
NM_003079.5:c.*4T>G MANE Select	NP_003070.3:n.*4T>G