Canonical Allele Identifier: CA351286257

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516052C>G (hg19) ; chr2:g.240576635C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576635C>G , CM000664.2:g.240576635C>G	GRCh38
NC_000002.11:g.241516052C>G , CM000664.1:g.241516052C>G	GRCh37
NC_000002.10:g.241164725C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1611C>G MANE Select	ENSP00000270357.4:p.Phe537Leu
ENST00000270357.8:c.918C>G	ENSP00000270357.3:p.Phe306Leu
ENST00000437406.1:c.177C>G	ENSP00000403319.1:p.Phe59Leu
ENST00000451363.5:c.252C>G	ENSP00000414661.1:p.Phe84Leu
ENST00000464550.5:n.447C>G
ENST00000471657.1:n.414C>G
ENST00000481757.5:n.2545C>G
ENST00000486058.5:n.1724C>G
ENST00000493398.5:n.757C>G
NM_018226.4:c.1611C>G	NP_060696.4:p.Phe537Leu
XM_005247036.3:c.1578C>G	XP_005247093.1:p.Phe526Leu
NM_018226.5:c.1611C>G	NP_060696.4:p.Phe537Leu
XM_005247036.4:c.1578C>G	XP_005247093.1:p.Phe526Leu
NM_018226.6:c.1611C>G MANE Select	NP_060696.4:p.Phe537Leu