Canonical Allele Identifier: CA1339183965

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576583A= , CM000664.2:g.240576583A=	GRCh38
NC_000002.11:g.241516000A= , CM000664.1:g.241516000A=	GRCh37
NC_000002.10:g.241164673A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1559A= MANE Select	ENSP00000270357.4:p.Glu520=
ENST00000270357.8:c.866A=	ENSP00000270357.3:p.Glu289=
ENST00000437406.1:c.125A=	ENSP00000403319.1:p.Glu42=
ENST00000451363.5:c.200A=	ENSP00000414661.1:p.Glu67=
ENST00000464550.5:n.395A=
ENST00000471657.1:n.362A=
ENST00000481757.5:n.2493A=
ENST00000486058.5:n.1672A=
ENST00000493398.5:n.705A=
NM_018226.4:c.1559A=	NP_060696.4:p.Glu520=
XM_005247036.3:c.1526A=	XP_005247093.1:p.Glu509=
NM_018226.5:c.1559A=	NP_060696.4:p.Glu520=
XM_005247036.4:c.1526A=	XP_005247093.1:p.Glu509=
NM_018226.6:c.1559A= MANE Select	NP_060696.4:p.Glu520=