Canonical Allele Identifier: CA1339183943

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576540G= , CM000664.2:g.240576540G=	GRCh38
NC_000002.11:g.241515957G= , CM000664.1:g.241515957G=	GRCh37
NC_000002.10:g.241164630G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1516G= MANE Select	ENSP00000270357.4:p.Glu506=
ENST00000270357.8:c.823G=	ENSP00000270357.3:p.Glu275=
ENST00000437406.1:c.110-28G=	ENSP00000403319.1:n.110-28G=
ENST00000451363.5:c.157G=	ENSP00000414661.1:p.Glu53=
ENST00000464550.5:n.352G=
ENST00000471657.1:n.319G=
ENST00000481757.5:n.2450G=
ENST00000486058.5:n.1629G=
ENST00000493398.5:n.662G=
NM_018226.4:c.1516G=	NP_060696.4:p.Glu506=
XM_005247036.3:c.1511-28G=	XP_005247093.1:n.1511-28G=
NM_018226.5:c.1516G=	NP_060696.4:p.Glu506=
XM_005247036.4:c.1511-28G=	XP_005247093.1:n.1511-28G=
NM_018226.6:c.1516G= MANE Select	NP_060696.4:p.Glu506=