Canonical Allele Identifier: CA1339183969

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576591C= , CM000664.2:g.240576591C=	GRCh38
NC_000002.11:g.241516008C= , CM000664.1:g.241516008C=	GRCh37
NC_000002.10:g.241164681C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1567C= MANE Select	ENSP00000270357.4:p.Leu523=
ENST00000270357.8:c.874C=	ENSP00000270357.3:p.Leu292=
ENST00000437406.1:c.133C=	ENSP00000403319.1:p.Leu45=
ENST00000451363.5:c.208C=	ENSP00000414661.1:p.Leu70=
ENST00000464550.5:n.403C=
ENST00000471657.1:n.370C=
ENST00000481757.5:n.2501C=
ENST00000486058.5:n.1680C=
ENST00000493398.5:n.713C=
NM_018226.4:c.1567C=	NP_060696.4:p.Leu523=
XM_005247036.3:c.1534C=	XP_005247093.1:p.Leu512=
NM_018226.5:c.1567C=	NP_060696.4:p.Leu523=
XM_005247036.4:c.1534C=	XP_005247093.1:p.Leu512=
NM_018226.6:c.1567C= MANE Select	NP_060696.4:p.Leu523=