Canonical Allele Identifier: CA1339183976

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576621G= , CM000664.2:g.240576621G=	GRCh38
NC_000002.11:g.241516038G= , CM000664.1:g.241516038G=	GRCh37
NC_000002.10:g.241164711G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1597G= MANE Select	ENSP00000270357.4:p.Val533=
ENST00000270357.8:c.904G=	ENSP00000270357.3:p.Val302=
ENST00000437406.1:c.163G=	ENSP00000403319.1:p.Val55=
ENST00000451363.5:c.238G=	ENSP00000414661.1:p.Val80=
ENST00000464550.5:n.433G=
ENST00000471657.1:n.400G=
ENST00000481757.5:n.2531G=
ENST00000486058.5:n.1710G=
ENST00000493398.5:n.743G=
NM_018226.4:c.1597G=	NP_060696.4:p.Val533=
XM_005247036.3:c.1564G=	XP_005247093.1:p.Val522=
NM_018226.5:c.1597G=	NP_060696.4:p.Val533=
XM_005247036.4:c.1564G=	XP_005247093.1:p.Val522=
NM_018226.6:c.1597G= MANE Select	NP_060696.4:p.Val533=