Canonical Allele Identifier: CA1339183602
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240575903G= , CM000664.2:g.240575903G= GRCh38
NC_000002.11:g.241515320G= , CM000664.1:g.241515320G= GRCh37
NC_000002.10:g.241163993G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1510+293G= MANE Select ENSP00000270357.4:n.1510+293G=
ENST00000270357.8:c.817+293G= ENSP00000270357.3:n.817+293G=
ENST00000437406.1:c.109+293G= ENSP00000403319.1:n.109+293G=
ENST00000451363.5:c.151+293G= ENSP00000414661.1:n.151+293G=
ENST00000464550.5:n.346+293G=
ENST00000471657.1:n.313+293G=
ENST00000481757.5:n.1813G=
ENST00000486058.5:n.1623+293G=
ENST00000493398.5:n.656+293G=
NM_018226.4:c.1510+293G= NP_060696.4:n.1510+293G=
XM_005247036.3:c.1510+293G= XP_005247093.1:n.1510+293G=
NM_018226.5:c.1510+293G= NP_060696.4:n.1510+293G=
XM_005247036.4:c.1510+293G= XP_005247093.1:n.1510+293G=
NM_018226.6:c.1510+293G= MANE Select NP_060696.4:n.1510+293G=