Canonical Allele Identifier: CA68116101

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs376225177
• gnomAD v3: 2-240576582-G-A
• gnomAD v4: 2-240576582-G-A
• MyVariant Identifiers: chr2:g.241515999G>A (hg19) ; chr2:g.240576582G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576582G>A , CM000664.2:g.240576582G>A	GRCh38
NC_000002.11:g.241515999G>A , CM000664.1:g.241515999G>A	GRCh37
NC_000002.10:g.241164672G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1558G>A MANE Select	ENSP00000270357.4:p.Glu520Lys
ENST00000270357.8:c.865G>A	ENSP00000270357.3:p.Glu289Lys
ENST00000437406.1:c.124G>A	ENSP00000403319.1:p.Glu42Lys
ENST00000451363.5:c.199G>A	ENSP00000414661.1:p.Glu67Lys
ENST00000464550.5:n.394G>A
ENST00000471657.1:n.361G>A
ENST00000481757.5:n.2492G>A
ENST00000486058.5:n.1671G>A
ENST00000493398.5:n.704G>A
NM_018226.4:c.1558G>A	NP_060696.4:p.Glu520Lys
XM_005247036.3:c.1525G>A	XP_005247093.1:p.Glu509Lys
NM_018226.5:c.1558G>A	NP_060696.4:p.Glu520Lys
XM_005247036.4:c.1525G>A	XP_005247093.1:p.Glu509Lys
NM_018226.6:c.1558G>A MANE Select	NP_060696.4:p.Glu520Lys