Canonical Allele Identifier: CA2205174

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs769144569
• ExAC: 2:241516033 G / A
• gnomAD v2: 2-241516033-G-A
• gnomAD v3: 2-240576616-G-A
• gnomAD v4: 2-240576616-G-A
• MyVariant Identifiers: chr2:g.241516033G>A (hg19) ; chr2:g.240576616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576616G>A , CM000664.2:g.240576616G>A	GRCh38
NC_000002.11:g.241516033G>A , CM000664.1:g.241516033G>A	GRCh37
NC_000002.10:g.241164706G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1592G>A MANE Select	ENSP00000270357.4:p.Arg531Gln
ENST00000270357.8:c.899G>A	ENSP00000270357.3:p.Arg300Gln
ENST00000437406.1:c.158G>A	ENSP00000403319.1:p.Arg53Gln
ENST00000451363.5:c.233G>A	ENSP00000414661.1:p.Arg78Gln
ENST00000464550.5:n.428G>A
ENST00000471657.1:n.395G>A
ENST00000481757.5:n.2526G>A
ENST00000486058.5:n.1705G>A
ENST00000493398.5:n.738G>A
NM_018226.4:c.1592G>A	NP_060696.4:p.Arg531Gln
XM_005247036.3:c.1559G>A	XP_005247093.1:p.Arg520Gln
NM_018226.5:c.1592G>A	NP_060696.4:p.Arg531Gln
XM_005247036.4:c.1559G>A	XP_005247093.1:p.Arg520Gln
NM_018226.6:c.1592G>A MANE Select	NP_060696.4:p.Arg531Gln