Canonical Allele Identifier: CA351286323

Gene: RNPEPL1

Linked Data

• gnomAD v4: 2-240576651-G-A
• COSMIC: COSM4764910
• MyVariant Identifiers: chr2:g.241516068G>A (hg19) ; chr2:g.240576651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576651G>A , CM000664.2:g.240576651G>A	GRCh38
NC_000002.11:g.241516068G>A , CM000664.1:g.241516068G>A	GRCh37
NC_000002.10:g.241164741G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1627G>A MANE Select	ENSP00000270357.4:p.Glu543Lys
ENST00000270357.8:c.934G>A	ENSP00000270357.3:p.Glu312Lys
ENST00000437406.1:c.193G>A	ENSP00000403319.1:p.Glu65Lys
ENST00000451363.5:c.268G>A	ENSP00000414661.1:p.Glu90Lys
ENST00000464550.5:n.463G>A
ENST00000471657.1:n.430G>A
ENST00000481757.5:n.2561G>A
ENST00000486058.5:n.1740G>A
ENST00000493398.5:n.773G>A
NM_018226.4:c.1627G>A	NP_060696.4:p.Glu543Lys
XM_005247036.3:c.1594G>A	XP_005247093.1:p.Glu532Lys
NM_018226.5:c.1627G>A	NP_060696.4:p.Glu543Lys
XM_005247036.4:c.1594G>A	XP_005247093.1:p.Glu532Lys
NM_018226.6:c.1627G>A MANE Select	NP_060696.4:p.Glu543Lys