Canonical Allele Identifier: CA432232358

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs371647969
• gnomAD v4: 2-240576575-G-C
• MyVariant Identifiers: chr2:g.241515992G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576575G>C , CM000664.2:g.240576575G>C	GRCh38
NC_000002.11:g.241515992G>C , CM000664.1:g.241515992G>C	GRCh37
NC_000002.10:g.241164665G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1551G>C MANE Select	ENSP00000270357.4:p.Pro517=
ENST00000270357.8:c.858G>C	ENSP00000270357.3:p.Pro286=
ENST00000437406.1:c.117G>C	ENSP00000403319.1:p.Pro39=
ENST00000451363.5:c.192G>C	ENSP00000414661.1:p.Pro64=
ENST00000464550.5:n.387G>C
ENST00000471657.1:n.354G>C
ENST00000481757.5:n.2485G>C
ENST00000486058.5:n.1664G>C
ENST00000493398.5:n.697G>C
NM_018226.4:c.1551G>C	NP_060696.4:p.Pro517=
XM_005247036.3:c.1518G>C	XP_005247093.1:p.Pro506=
NM_018226.5:c.1551G>C	NP_060696.4:p.Pro517=
XM_005247036.4:c.1518G>C	XP_005247093.1:p.Pro506=
NM_018226.6:c.1551G>C MANE Select	NP_060696.4:p.Pro517=