Linked Data
ClinVar Variation Id:
433195
ClinVar RCV Id:
RCV000499008
dbSNP Id:
rs781720548
PubMed:
PMID:28628109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.35652946C>A , CM000682.2:g.35652946C>A | GRCh38 |
| NC_000020.10:g.34240868C>A , CM000682.1:g.34240868C>A | GRCh37 |
| NC_000020.9:g.33704282C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374114.8:c.2377G>T (RBM12) MANE Select | ENSP00000363228.3:p.Gly793Ter | |
| ENST00000397443.7:c.-1+11814G>T (CPNE1) MANE Select | ENSP00000380585.1:n.-1+11814G>T | |
| ENST00000317677.9:c.15+582G>T (CPNE1) | ENSP00000317257.5:n.15+582G>T | |
| ENST00000352393.8:c.-1+2256G>T (CPNE1) | ENSP00000336945.4:n.-1+2256G>T | |
| ENST00000359646.1:c.2377G>T (RBM12) | ENSP00000352668.1:p.Gly793Ter | |
| ENST00000374104.7:c.2377G>T (RBM12) | ENSP00000363217.3:p.Gly793Ter | |
| ENST00000374114.7:c.2377G>T (RBM12) | ENSP00000363228.3:p.Gly793Ter | |
| ENST00000397442.5:c.-1+11856G>T (CPNE1) | ENSP00000380584.1:n.-1+11856G>T | |
| ENST00000397443.6:c.-1+11814G>T (CPNE1) | ENSP00000380585.1:n.-1+11814G>T | |
| ENST00000401607.6:c.-1+11856G>T (CPNE1) | ENSP00000386067.2:n.-1+11856G>T | |
| ENST00000412056.5:c.-1+11856G>T (CPNE1) | ENSP00000416962.1:n.-1+11856G>T | |
| ENST00000414664.5:c.-1+11814G>T (CPNE1) | ENSP00000404355.1:n.-1+11814G>T | |
| ENST00000414711.5:c.-1+2256G>T (CPNE1) | ENSP00000409955.1:n.-1+2256G>T | |
| ENST00000416778.5:c.-1+11814G>T (CPNE1) | ENSP00000389662.1:n.-1+11814G>T | |
| ENST00000420363.5:c.-1+5984G>T (CPNE1) | ENSP00000401915.1:n.-1+5984G>T | |
| ENST00000430570.5:c.-1+11814G>T (CPNE1) | ENSP00000390626.1:n.-1+11814G>T | |
| ENST00000434795.5:c.-1+5984G>T (CPNE1) | ENSP00000409794.1:n.-1+5984G>T | |
| ENST00000435747.2:c.-1+11413G>T (CPNE1) | ENSP00000412806.1:n.-1+11413G>T | |
| ENST00000437100.5:c.-1+2256G>T (CPNE1) | ENSP00000391483.1:n.-1+2256G>T | |
| ENST00000437340.5:c.-1+11856G>T (CPNE1) | ENSP00000415597.1:n.-1+11856G>T | |
| ENST00000439669.5:c.-1+11814G>T (CPNE1) | ENSP00000409305.1:n.-1+11814G>T | |
| ENST00000439806.6:c.-1+11933G>T (CPNE1) | ENSP00000387434.1:n.-1+11933G>T | |
| ENST00000440240.5:c.-1+2256G>T (CPNE1) | ENSP00000397638.1:n.-1+2256G>T | |
| ENST00000441563.5:c.385+2256G>T | ||
| ENST00000454607.5:c.453+2256G>T | ||
| ENST00000458038.5:c.-1+5984G>T (CPNE1) | ENSP00000390141.1:n.-1+5984G>T | |
| ENST00000483359.5:n.102+11814G>T (CPNE1) | ||
| ENST00000541176.2:c.517+2256G>T | ||
| NM_001198838.1:c.2377G>T (RBM12) | NP_001185767.1:p.Gly793Ter | |
| NM_001198840.1:c.2377G>T (RBM12) | NP_001185769.1:p.Gly793Ter | |
| NM_001198863.1:c.-1+11856G>T (CPNE1) | NP_001185792.1:n.-1+11856G>T | |
| NM_003915.5:c.15+582G>T (CPNE1) | NP_003906.2:n.15+582G>T | |
| NM_006047.5:c.2377G>T (RBM12) | NP_006038.2:p.Gly793Ter | |
| NM_152838.3:c.2377G>T (RBM12) | NP_690051.1:p.Gly793Ter | |
| NM_152925.2:c.-1+11814G>T (CPNE1) | NP_690902.1:n.-1+11814G>T | |
| NM_152926.2:c.-1+11856G>T (CPNE1) | NP_690903.1:n.-1+11856G>T | |
| NM_152927.2:c.-1+5984G>T (CPNE1) | NP_690904.1:n.-1+5984G>T | |
| NM_152928.2:c.-1+5984G>T (CPNE1) | NP_690905.1:n.-1+5984G>T | |
| NR_037188.1:n.374+2256G>T (CPNE1) | ||
| NM_006047.6:c.2377G>T (RBM12) MANE Select | NP_006038.2:p.Gly793Ter | |
| NM_001198838.2:c.2377G>T (RBM12) | NP_001185767.1:p.Gly793Ter | |
| NM_001198840.2:c.2377G>T (RBM12) | NP_001185769.1:p.Gly793Ter | |
| NM_001198863.2:c.-1+11856G>T (CPNE1) | NP_001185792.1:n.-1+11856G>T | |
| NM_152838.4:c.2377G>T (RBM12) | NP_690051.1:p.Gly793Ter | |
| NM_152925.3:c.-1+11814G>T (CPNE1) MANE Select | NP_690902.1:n.-1+11814G>T | |
| NM_152926.3:c.-1+11856G>T (CPNE1) | NP_690903.1:n.-1+11856G>T | |
| NM_152927.3:c.-1+5984G>T (CPNE1) | NP_690904.1:n.-1+5984G>T | |
| NM_152928.3:c.-1+5984G>T (CPNE1) | NP_690905.1:n.-1+5984G>T | |
| NR_037188.2:n.337+2256G>T (CPNE1) | ||
| NM_003915.6:c.15+582G>T (CPNE1) | NP_003906.2:n.15+582G>T |