Canonical Allele Identifier: CA351285992

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515994T>G (hg19) ; chr2:g.240576577T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576577T>G , CM000664.2:g.240576577T>G	GRCh38
NC_000002.11:g.241515994T>G , CM000664.1:g.241515994T>G	GRCh37
NC_000002.10:g.241164667T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1553T>G MANE Select	ENSP00000270357.4:p.Leu518Arg
ENST00000270357.8:c.860T>G	ENSP00000270357.3:p.Leu287Arg
ENST00000437406.1:c.119T>G	ENSP00000403319.1:p.Leu40Arg
ENST00000451363.5:c.194T>G	ENSP00000414661.1:p.Leu65Arg
ENST00000464550.5:n.389T>G
ENST00000471657.1:n.356T>G
ENST00000481757.5:n.2487T>G
ENST00000486058.5:n.1666T>G
ENST00000493398.5:n.699T>G
NM_018226.4:c.1553T>G	NP_060696.4:p.Leu518Arg
XM_005247036.3:c.1520T>G	XP_005247093.1:p.Leu507Arg
NM_018226.5:c.1553T>G	NP_060696.4:p.Leu518Arg
XM_005247036.4:c.1520T>G	XP_005247093.1:p.Leu507Arg
NM_018226.6:c.1553T>G MANE Select	NP_060696.4:p.Leu518Arg