Canonical Allele Identifier: CA2259640470
Gene: SMARCE1 HGNC NCBI

Linked Data

dbSNP Id: rs2037058934

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40628733A>G , CM000679.2:g.40628733A>G GRCh38
NC_000017.10:g.38784985A>G , CM000679.1:g.38784985A>G GRCh37
NC_000017.9:g.36038511A>G NCBI36
NG_032163.1:g.24119T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000264640.9:c.*850T>C ENSP00000466608.2:n.*850T>C
ENST00000348513.12:c.*52T>C MANE Select ENSP00000323967.6:n.*52T>C
ENST00000377808.9:c.*275T>C ENSP00000367039.4:n.*275T>C
ENST00000400122.8:c.*275T>C ENSP00000411607.2:n.*275T>C
ENST00000469334.6:n.1886T>C
ENST00000578112.6:c.*1085T>C ENSP00000464501.1:n.*1085T>C
ENST00000580419.6:c.*267T>C ENSP00000462475.2:n.*267T>C
ENST00000642576.1:n.2431T>C
ENST00000643030.1:n.1911T>C
ENST00000643255.1:c.*3352T>C ENSP00000493957.1:n.*3352T>C
ENST00000643318.1:c.*52T>C ENSP00000494771.1:n.*52T>C
ENST00000643378.1:n.1843T>C
ENST00000643683.1:c.*52T>C ENSP00000496094.1:n.*52T>C
ENST00000643893.1:n.1581T>C
ENST00000644443.1:n.3176T>C
ENST00000644523.1:n.1334T>C
ENST00000644527.1:c.*52T>C ENSP00000493974.1:n.*52T>C
ENST00000644701.1:c.*275T>C ENSP00000496097.1:n.*275T>C
ENST00000644909.1:c.*557T>C ENSP00000493649.1:n.*557T>C
ENST00000645152.1:n.1951T>C
ENST00000645227.1:c.*976T>C ENSP00000495021.1:n.*976T>C
ENST00000646242.1:n.7200T>C
ENST00000646283.1:c.*52T>C ENSP00000494537.1:n.*52T>C
ENST00000646401.1:n.2654T>C
ENST00000646856.1:c.*1164T>C ENSP00000494505.1:n.*1164T>C
ENST00000647294.1:c.*1218T>C ENSP00000494815.1:n.*1218T>C
ENST00000647508.1:c.*52T>C ENSP00000496445.1:n.*52T>C
ENST00000647515.1:c.*819T>C ENSP00000495857.1:n.*819T>C
ENST00000348513.10:c.*52T>C ENSP00000323967.6:n.*52T>C
ENST00000431889.6:c.*52T>C ENSP00000445370.1:n.*52T>C
ENST00000469334.5:n.1875T>C
ENST00000578112.5:c.*1085T>C ENSP00000464501.1:n.*1085T>C
NM_003079.4:c.*52T>C NP_003070.3:n.*52T>C
NM_003079.5:c.*52T>C MANE Select NP_003070.3:n.*52T>C