Canonical Allele Identifier: CA351285989

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241515993C>G (hg19) ; chr2:g.240576576C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576576C>G , CM000664.2:g.240576576C>G	GRCh38
NC_000002.11:g.241515993C>G , CM000664.1:g.241515993C>G	GRCh37
NC_000002.10:g.241164666C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1552C>G MANE Select	ENSP00000270357.4:p.Leu518Val
ENST00000270357.8:c.859C>G	ENSP00000270357.3:p.Leu287Val
ENST00000437406.1:c.118C>G	ENSP00000403319.1:p.Leu40Val
ENST00000451363.5:c.193C>G	ENSP00000414661.1:p.Leu65Val
ENST00000464550.5:n.388C>G
ENST00000471657.1:n.355C>G
ENST00000481757.5:n.2486C>G
ENST00000486058.5:n.1665C>G
ENST00000493398.5:n.698C>G
NM_018226.4:c.1552C>G	NP_060696.4:p.Leu518Val
XM_005247036.3:c.1519C>G	XP_005247093.1:p.Leu507Val
NM_018226.5:c.1552C>G	NP_060696.4:p.Leu518Val
XM_005247036.4:c.1519C>G	XP_005247093.1:p.Leu507Val
NM_018226.6:c.1552C>G MANE Select	NP_060696.4:p.Leu518Val