Canonical Allele Identifier: CA68116082

Gene: RNPEPL1

Linked Data

• ClinVar Variation Id: 2478972
• ClinVar RCV Id: RCV004271661
• dbSNP Id: rs543537537
• gnomAD v2: 2-241515963-G-A
• gnomAD v3: 2-240576546-G-A
• gnomAD v4: 2-240576546-G-A
• MyVariant Identifiers: chr2:g.241515963G>A (hg19) ; chr2:g.240576546G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576546G>A , CM000664.2:g.240576546G>A	GRCh38
NC_000002.11:g.241515963G>A , CM000664.1:g.241515963G>A	GRCh37
NC_000002.10:g.241164636G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1522G>A MANE Select	ENSP00000270357.4:p.Glu508Lys
ENST00000270357.8:c.829G>A	ENSP00000270357.3:p.Glu277Lys
ENST00000437406.1:c.110-22G>A	ENSP00000403319.1:n.110-22G>A
ENST00000451363.5:c.163G>A	ENSP00000414661.1:p.Glu55Lys
ENST00000464550.5:n.358G>A
ENST00000471657.1:n.325G>A
ENST00000481757.5:n.2456G>A
ENST00000486058.5:n.1635G>A
ENST00000493398.5:n.668G>A
NM_018226.4:c.1522G>A	NP_060696.4:p.Glu508Lys
XM_005247036.3:c.1511-22G>A	XP_005247093.1:n.1511-22G>A
NM_018226.5:c.1522G>A	NP_060696.4:p.Glu508Lys
XM_005247036.4:c.1511-22G>A	XP_005247093.1:n.1511-22G>A
NM_018226.6:c.1522G>A MANE Select	NP_060696.4:p.Glu508Lys