Canonical Allele Identifier: CA1339183980

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576632T= , CM000664.2:g.240576632T=	GRCh38
NC_000002.11:g.241516049T= , CM000664.1:g.241516049T=	GRCh37
NC_000002.10:g.241164722T=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1608T= MANE Select	ENSP00000270357.4:p.Leu536=
ENST00000270357.8:c.915T=	ENSP00000270357.3:p.Leu305=
ENST00000437406.1:c.174T=	ENSP00000403319.1:p.Leu58=
ENST00000451363.5:c.249T=	ENSP00000414661.1:p.Leu83=
ENST00000464550.5:n.444T=
ENST00000471657.1:n.411T=
ENST00000481757.5:n.2542T=
ENST00000486058.5:n.1721T=
ENST00000493398.5:n.754T=
NM_018226.4:c.1608T=	NP_060696.4:p.Leu536=
XM_005247036.3:c.1575T=	XP_005247093.1:p.Leu525=
NM_018226.5:c.1608T=	NP_060696.4:p.Leu536=
XM_005247036.4:c.1575T=	XP_005247093.1:p.Leu525=
NM_018226.6:c.1608T= MANE Select	NP_060696.4:p.Leu536=