Canonical Allele Identifier: CA9836883

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.35654932G>A , CM000682.2:g.35654932G>A GRCh38
NC_000020.10:g.34242854G>A , CM000682.1:g.34242854G>A GRCh37
NC_000020.9:g.33706268G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000374114.8:c.391C>T (RBM12) MANE Select ENSP00000363228.3:p.Pro131Ser
ENST00000397443.7:c.-1+9828C>T (CPNE1) MANE Select ENSP00000380585.1:n.-1+9828C>T
ENST00000352393.8:c.-1+270C>T (CPNE1) ENSP00000336945.4:n.-1+270C>T
ENST00000359646.1:c.391C>T (RBM12) ENSP00000352668.1:p.Pro131Ser
ENST00000374104.7:c.391C>T (RBM12) ENSP00000363217.3:p.Pro131Ser
ENST00000374114.7:c.391C>T (RBM12) ENSP00000363228.3:p.Pro131Ser
ENST00000397442.5:c.-1+9870C>T (CPNE1) ENSP00000380584.1:n.-1+9870C>T
ENST00000397443.6:c.-1+9828C>T (CPNE1) ENSP00000380585.1:n.-1+9828C>T
ENST00000401607.6:c.-1+9870C>T (CPNE1) ENSP00000386067.2:n.-1+9870C>T
ENST00000412056.5:c.-1+9870C>T (CPNE1) ENSP00000416962.1:n.-1+9870C>T
ENST00000414664.5:c.-1+9828C>T (CPNE1) ENSP00000404355.1:n.-1+9828C>T
ENST00000414711.5:c.-1+270C>T (CPNE1) ENSP00000409955.1:n.-1+270C>T
ENST00000416778.5:c.-1+9828C>T (CPNE1) ENSP00000389662.1:n.-1+9828C>T
ENST00000420363.5:c.-1+3998C>T (CPNE1) ENSP00000401915.1:n.-1+3998C>T
ENST00000424458.5:c.391C>T (RBM12) ENSP00000411036.1:p.Pro131Ser
ENST00000430570.5:c.-1+9828C>T (CPNE1) ENSP00000390626.1:n.-1+9828C>T
ENST00000431148.1:c.391C>T (RBM12) ENSP00000392642.1:p.Pro131Ser
ENST00000434795.5:c.-1+3998C>T (CPNE1) ENSP00000409794.1:n.-1+3998C>T
ENST00000435161.1:c.391C>T (RBM12) ENSP00000411692.1:p.Pro131Ser
ENST00000435747.2:c.-1+9427C>T (CPNE1) ENSP00000412806.1:n.-1+9427C>T
ENST00000437100.5:c.-1+270C>T (CPNE1) ENSP00000391483.1:n.-1+270C>T
ENST00000437340.5:c.-1+9870C>T (CPNE1) ENSP00000415597.1:n.-1+9870C>T
ENST00000439669.5:c.-1+9828C>T (CPNE1) ENSP00000409305.1:n.-1+9828C>T
ENST00000439806.6:c.-1+9947C>T (CPNE1) ENSP00000387434.1:n.-1+9947C>T
ENST00000440240.5:c.-1+270C>T (CPNE1) ENSP00000397638.1:n.-1+270C>T
ENST00000441563.5:c.385+270C>T
ENST00000454607.5:c.453+270C>T
ENST00000458038.5:c.-1+3998C>T (CPNE1) ENSP00000390141.1:n.-1+3998C>T
ENST00000483359.5:n.102+9828C>T (CPNE1)
ENST00000541176.2:c.517+270C>T
NM_001198838.1:c.391C>T (RBM12) NP_001185767.1:p.Pro131Ser
NM_001198840.1:c.391C>T (RBM12) NP_001185769.1:p.Pro131Ser
NM_001198863.1:c.-1+9870C>T (CPNE1) NP_001185792.1:n.-1+9870C>T
NM_006047.5:c.391C>T (RBM12) NP_006038.2:p.Pro131Ser
NM_152838.3:c.391C>T (RBM12) NP_690051.1:p.Pro131Ser
NM_152925.2:c.-1+9828C>T (CPNE1) NP_690902.1:n.-1+9828C>T
NM_152926.2:c.-1+9870C>T (CPNE1) NP_690903.1:n.-1+9870C>T
NM_152927.2:c.-1+3998C>T (CPNE1) NP_690904.1:n.-1+3998C>T
NM_152928.2:c.-1+3998C>T (CPNE1) NP_690905.1:n.-1+3998C>T
NR_037188.1:n.374+270C>T (CPNE1)
NM_006047.6:c.391C>T (RBM12) MANE Select NP_006038.2:p.Pro131Ser
NM_001198838.2:c.391C>T (RBM12) NP_001185767.1:p.Pro131Ser
NM_001198840.2:c.391C>T (RBM12) NP_001185769.1:p.Pro131Ser
NM_001198863.2:c.-1+9870C>T (CPNE1) NP_001185792.1:n.-1+9870C>T
NM_152838.4:c.391C>T (RBM12) NP_690051.1:p.Pro131Ser
NM_152925.3:c.-1+9828C>T (CPNE1) MANE Select NP_690902.1:n.-1+9828C>T
NM_152926.3:c.-1+9870C>T (CPNE1) NP_690903.1:n.-1+9870C>T
NM_152927.3:c.-1+3998C>T (CPNE1) NP_690904.1:n.-1+3998C>T
NM_152928.3:c.-1+3998C>T (CPNE1) NP_690905.1:n.-1+3998C>T
NR_037188.2:n.337+270C>T (CPNE1)