Canonical Allele Identifier: CA1339183959

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576575G= , CM000664.2:g.240576575G=	GRCh38
NC_000002.11:g.241515992G= , CM000664.1:g.241515992G=	GRCh37
NC_000002.10:g.241164665G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1551G= MANE Select	ENSP00000270357.4:p.Pro517=
ENST00000270357.8:c.858G=	ENSP00000270357.3:p.Pro286=
ENST00000437406.1:c.117G=	ENSP00000403319.1:p.Pro39=
ENST00000451363.5:c.192G=	ENSP00000414661.1:p.Pro64=
ENST00000464550.5:n.387G=
ENST00000471657.1:n.354G=
ENST00000481757.5:n.2485G=
ENST00000486058.5:n.1664G=
ENST00000493398.5:n.697G=
NM_018226.4:c.1551G=	NP_060696.4:p.Pro517=
XM_005247036.3:c.1518G=	XP_005247093.1:p.Pro506=
NM_018226.5:c.1551G=	NP_060696.4:p.Pro517=
XM_005247036.4:c.1518G=	XP_005247093.1:p.Pro506=
NM_018226.6:c.1551G= MANE Select	NP_060696.4:p.Pro517=