Canonical Allele Identifier: CA351285990

Gene: RNPEPL1

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1553T>A MANE Select	ENSP00000270357.4:p.Leu518Gln
ENST00000270357.8:c.860T>A	ENSP00000270357.3:p.Leu287Gln
ENST00000437406.1:c.119T>A	ENSP00000403319.1:p.Leu40Gln
ENST00000451363.5:c.194T>A	ENSP00000414661.1:p.Leu65Gln
ENST00000464550.5:n.389T>A
ENST00000471657.1:n.356T>A
ENST00000481757.5:n.2487T>A
ENST00000486058.5:n.1666T>A
ENST00000493398.5:n.699T>A
NM_018226.4:c.1553T>A	NP_060696.4:p.Leu518Gln
XM_005247036.3:c.1520T>A	XP_005247093.1:p.Leu507Gln
NM_018226.5:c.1553T>A	NP_060696.4:p.Leu518Gln
XM_005247036.4:c.1520T>A	XP_005247093.1:p.Leu507Gln
NM_018226.6:c.1553T>A MANE Select	NP_060696.4:p.Leu518Gln