Canonical Allele Identifier: CA1339183973

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576615C= , CM000664.2:g.240576615C=	GRCh38
NC_000002.11:g.241516032C= , CM000664.1:g.241516032C=	GRCh37
NC_000002.10:g.241164705C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1591C= MANE Select	ENSP00000270357.4:p.Arg531=
ENST00000270357.8:c.898C=	ENSP00000270357.3:p.Arg300=
ENST00000437406.1:c.157C=	ENSP00000403319.1:p.Arg53=
ENST00000451363.5:c.232C=	ENSP00000414661.1:p.Arg78=
ENST00000464550.5:n.427C=
ENST00000471657.1:n.394C=
ENST00000481757.5:n.2525C=
ENST00000486058.5:n.1704C=
ENST00000493398.5:n.737C=
NM_018226.4:c.1591C=	NP_060696.4:p.Arg531=
XM_005247036.3:c.1558C=	XP_005247093.1:p.Arg520=
NM_018226.5:c.1591C=	NP_060696.4:p.Arg531=
XM_005247036.4:c.1558C=	XP_005247093.1:p.Arg520=
NM_018226.6:c.1591C= MANE Select	NP_060696.4:p.Arg531=