Canonical Allele Identifier: CA1339183945

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576546G= , CM000664.2:g.240576546G=	GRCh38
NC_000002.11:g.241515963G= , CM000664.1:g.241515963G=	GRCh37
NC_000002.10:g.241164636G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1522G= MANE Select	ENSP00000270357.4:p.Glu508=
ENST00000270357.8:c.829G=	ENSP00000270357.3:p.Glu277=
ENST00000437406.1:c.110-22G=	ENSP00000403319.1:n.110-22G=
ENST00000451363.5:c.163G=	ENSP00000414661.1:p.Glu55=
ENST00000464550.5:n.358G=
ENST00000471657.1:n.325G=
ENST00000481757.5:n.2456G=
ENST00000486058.5:n.1635G=
ENST00000493398.5:n.668G=
NM_018226.4:c.1522G=	NP_060696.4:p.Glu508=
XM_005247036.3:c.1511-22G=	XP_005247093.1:n.1511-22G=
NM_018226.5:c.1522G=	NP_060696.4:p.Glu508=
XM_005247036.4:c.1511-22G=	XP_005247093.1:n.1511-22G=
NM_018226.6:c.1522G= MANE Select	NP_060696.4:p.Glu508=