Canonical Allele Identifier: CA1339183966

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576585C= , CM000664.2:g.240576585C=	GRCh38
NC_000002.11:g.241516002C= , CM000664.1:g.241516002C=	GRCh37
NC_000002.10:g.241164675C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1561C= MANE Select	ENSP00000270357.4:p.Pro521=
ENST00000270357.8:c.868C=	ENSP00000270357.3:p.Pro290=
ENST00000437406.1:c.127C=	ENSP00000403319.1:p.Pro43=
ENST00000451363.5:c.202C=	ENSP00000414661.1:p.Pro68=
ENST00000464550.5:n.397C=
ENST00000471657.1:n.364C=
ENST00000481757.5:n.2495C=
ENST00000486058.5:n.1674C=
ENST00000493398.5:n.707C=
NM_018226.4:c.1561C=	NP_060696.4:p.Pro521=
XM_005247036.3:c.1528C=	XP_005247093.1:p.Pro510=
NM_018226.5:c.1561C=	NP_060696.4:p.Pro521=
XM_005247036.4:c.1528C=	XP_005247093.1:p.Pro510=
NM_018226.6:c.1561C= MANE Select	NP_060696.4:p.Pro521=