Canonical Allele Identifier: CA2205177

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs772380875
• ExAC: 2:241516038 G / A
• gnomAD v2: 2-241516038-G-A
• gnomAD v3: 2-240576621-G-A
• gnomAD v4: 2-240576621-G-A
• COSMIC: COSM4722250
• MyVariant Identifiers: chr2:g.241516038G>A (hg19) ; chr2:g.240576621G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576621G>A , CM000664.2:g.240576621G>A	GRCh38
NC_000002.11:g.241516038G>A , CM000664.1:g.241516038G>A	GRCh37
NC_000002.10:g.241164711G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1597G>A MANE Select	ENSP00000270357.4:p.Val533Met
ENST00000270357.8:c.904G>A	ENSP00000270357.3:p.Val302Met
ENST00000437406.1:c.163G>A	ENSP00000403319.1:p.Val55Met
ENST00000451363.5:c.238G>A	ENSP00000414661.1:p.Val80Met
ENST00000464550.5:n.433G>A
ENST00000471657.1:n.400G>A
ENST00000481757.5:n.2531G>A
ENST00000486058.5:n.1710G>A
ENST00000493398.5:n.743G>A
NM_018226.4:c.1597G>A	NP_060696.4:p.Val533Met
XM_005247036.3:c.1564G>A	XP_005247093.1:p.Val522Met
NM_018226.5:c.1597G>A	NP_060696.4:p.Val533Met
XM_005247036.4:c.1564G>A	XP_005247093.1:p.Val522Met
NM_018226.6:c.1597G>A MANE Select	NP_060696.4:p.Val533Met