Canonical Allele Identifier: CA432232455

Gene: RNPEPL1

Linked Data

• MyVariant Identifiers: chr2:g.241516034G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576617G>C , CM000664.2:g.240576617G>C	GRCh38
NC_000002.11:g.241516034G>C , CM000664.1:g.241516034G>C	GRCh37
NC_000002.10:g.241164707G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1593G>C MANE Select	ENSP00000270357.4:p.Arg531=
ENST00000270357.8:c.900G>C	ENSP00000270357.3:p.Arg300=
ENST00000437406.1:c.159G>C	ENSP00000403319.1:p.Arg53=
ENST00000451363.5:c.234G>C	ENSP00000414661.1:p.Arg78=
ENST00000464550.5:n.429G>C
ENST00000471657.1:n.396G>C
ENST00000481757.5:n.2527G>C
ENST00000486058.5:n.1706G>C
ENST00000493398.5:n.739G>C
NM_018226.4:c.1593G>C	NP_060696.4:p.Arg531=
XM_005247036.3:c.1560G>C	XP_005247093.1:p.Arg520=
NM_018226.5:c.1593G>C	NP_060696.4:p.Arg531=
XM_005247036.4:c.1560G>C	XP_005247093.1:p.Arg520=
NM_018226.6:c.1593G>C MANE Select	NP_060696.4:p.Arg531=