Canonical Allele Identifier: CA1339183622
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240575938C= , CM000664.2:g.240575938C= GRCh38
NC_000002.11:g.241515355C= , CM000664.1:g.241515355C= GRCh37
NC_000002.10:g.241164028C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1510+328C= MANE Select ENSP00000270357.4:n.1510+328C=
ENST00000270357.8:c.817+328C= ENSP00000270357.3:n.817+328C=
ENST00000437406.1:c.109+328C= ENSP00000403319.1:n.109+328C=
ENST00000451363.5:c.151+328C= ENSP00000414661.1:n.151+328C=
ENST00000464550.5:n.346+328C=
ENST00000471657.1:n.313+328C=
ENST00000481757.5:n.1848C=
ENST00000486058.5:n.1623+328C=
ENST00000493398.5:n.656+328C=
NM_018226.4:c.1510+328C= NP_060696.4:n.1510+328C=
XM_005247036.3:c.1510+328C= XP_005247093.1:n.1510+328C=
NM_018226.5:c.1510+328C= NP_060696.4:n.1510+328C=
XM_005247036.4:c.1510+328C= XP_005247093.1:n.1510+328C=
NM_018226.6:c.1510+328C= MANE Select NP_060696.4:n.1510+328C=