Canonical Allele Identifier: CA1339183607

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240575909G= , CM000664.2:g.240575909G=	GRCh38
NC_000002.11:g.241515326G= , CM000664.1:g.241515326G=	GRCh37
NC_000002.10:g.241163999G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1510+299G= MANE Select	ENSP00000270357.4:n.1510+299G=
ENST00000270357.8:c.817+299G=	ENSP00000270357.3:n.817+299G=
ENST00000437406.1:c.109+299G=	ENSP00000403319.1:n.109+299G=
ENST00000451363.5:c.151+299G=	ENSP00000414661.1:n.151+299G=
ENST00000464550.5:n.346+299G=
ENST00000471657.1:n.313+299G=
ENST00000481757.5:n.1819G=
ENST00000486058.5:n.1623+299G=
ENST00000493398.5:n.656+299G=
NM_018226.4:c.1510+299G=	NP_060696.4:n.1510+299G=
XM_005247036.3:c.1510+299G=	XP_005247093.1:n.1510+299G=
NM_018226.5:c.1510+299G=	NP_060696.4:n.1510+299G=
XM_005247036.4:c.1510+299G=	XP_005247093.1:n.1510+299G=
NM_018226.6:c.1510+299G= MANE Select	NP_060696.4:n.1510+299G=