Canonical Allele Identifier: CA1339183987

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576660G= , CM000664.2:g.240576660G=	GRCh38
NC_000002.11:g.241516077G= , CM000664.1:g.241516077G=	GRCh37
NC_000002.10:g.241164750G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1636G= MANE Select	ENSP00000270357.4:p.Asp546=
ENST00000270357.8:c.943G=	ENSP00000270357.3:p.Asp315=
ENST00000437406.1:c.202G=	ENSP00000403319.1:p.Asp68=
ENST00000451363.5:c.277G=	ENSP00000414661.1:p.Asp93=
ENST00000464550.5:n.472G=
ENST00000471657.1:n.439G=
ENST00000481757.5:n.2570G=
ENST00000486058.5:n.1749G=
ENST00000493398.5:n.782G=
NM_018226.4:c.1636G=	NP_060696.4:p.Asp546=
XM_005247036.3:c.1603G=	XP_005247093.1:p.Asp535=
NM_018226.5:c.1636G=	NP_060696.4:p.Asp546=
XM_005247036.4:c.1603G=	XP_005247093.1:p.Asp535=
NM_018226.6:c.1636G= MANE Select	NP_060696.4:p.Asp546=