Canonical Allele Identifier: CA1339183598
Gene: RNPEPL1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240575889G= , CM000664.2:g.240575889G= GRCh38
NC_000002.11:g.241515306G= , CM000664.1:g.241515306G= GRCh37
NC_000002.10:g.241163979G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1510+279G= MANE Select ENSP00000270357.4:n.1510+279G=
ENST00000270357.8:c.817+279G= ENSP00000270357.3:n.817+279G=
ENST00000437406.1:c.109+279G= ENSP00000403319.1:n.109+279G=
ENST00000451363.5:c.151+279G= ENSP00000414661.1:n.151+279G=
ENST00000464550.5:n.346+279G=
ENST00000471657.1:n.313+279G=
ENST00000481757.5:n.1799G=
ENST00000486058.5:n.1623+279G=
ENST00000493398.5:n.656+279G=
NM_018226.4:c.1510+279G= NP_060696.4:n.1510+279G=
XM_005247036.3:c.1510+279G= XP_005247093.1:n.1510+279G=
NM_018226.5:c.1510+279G= NP_060696.4:n.1510+279G=
XM_005247036.4:c.1510+279G= XP_005247093.1:n.1510+279G=
NM_018226.6:c.1510+279G= MANE Select NP_060696.4:n.1510+279G=