Canonical Allele Identifier: CA351286282
Gene: RNPEPL1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.240576640T>G , CM000664.2:g.240576640T>G GRCh38
NC_000002.11:g.241516057T>G , CM000664.1:g.241516057T>G GRCh37
NC_000002.10:g.241164730T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000270357.10:c.1616T>G MANE Select ENSP00000270357.4:p.Leu539Arg
ENST00000270357.8:c.923T>G ENSP00000270357.3:p.Leu308Arg
ENST00000437406.1:c.182T>G ENSP00000403319.1:p.Leu61Arg
ENST00000451363.5:c.257T>G ENSP00000414661.1:p.Leu86Arg
ENST00000464550.5:n.452T>G
ENST00000471657.1:n.419T>G
ENST00000481757.5:n.2550T>G
ENST00000486058.5:n.1729T>G
ENST00000493398.5:n.762T>G
NM_018226.4:c.1616T>G NP_060696.4:p.Leu539Arg
XM_005247036.3:c.1583T>G XP_005247093.1:p.Leu528Arg
NM_018226.5:c.1616T>G NP_060696.4:p.Leu539Arg
XM_005247036.4:c.1583T>G XP_005247093.1:p.Leu528Arg
NM_018226.6:c.1616T>G MANE Select NP_060696.4:p.Leu539Arg