Canonical Allele Identifier: CA1339183942

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576536G= , CM000664.2:g.240576536G=	GRCh38
NC_000002.11:g.241515953G= , CM000664.1:g.241515953G=	GRCh37
NC_000002.10:g.241164626G=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1512G= MANE Select	ENSP00000270357.4:p.Gly504=
ENST00000270357.8:c.819G=	ENSP00000270357.3:p.Gly273=
ENST00000437406.1:c.110-32G=	ENSP00000403319.1:n.110-32G=
ENST00000451363.5:c.153G=	ENSP00000414661.1:p.Gly51=
ENST00000464550.5:n.348G=
ENST00000471657.1:n.315G=
ENST00000481757.5:n.2446G=
ENST00000486058.5:n.1625G=
ENST00000493398.5:n.658G=
NM_018226.4:c.1512G=	NP_060696.4:p.Gly504=
XM_005247036.3:c.1511-32G=	XP_005247093.1:n.1511-32G=
NM_018226.5:c.1512G=	NP_060696.4:p.Gly504=
XM_005247036.4:c.1511-32G=	XP_005247093.1:n.1511-32G=
NM_018226.6:c.1512G= MANE Select	NP_060696.4:p.Gly504=