Canonical Allele Identifier: CA1339183944

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576545C= , CM000664.2:g.240576545C=	GRCh38
NC_000002.11:g.241515962C= , CM000664.1:g.241515962C=	GRCh37
NC_000002.10:g.241164635C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1521C= MANE Select	ENSP00000270357.4:p.Phe507=
ENST00000270357.8:c.828C=	ENSP00000270357.3:p.Phe276=
ENST00000437406.1:c.110-23C=	ENSP00000403319.1:n.110-23C=
ENST00000451363.5:c.162C=	ENSP00000414661.1:p.Phe54=
ENST00000464550.5:n.357C=
ENST00000471657.1:n.324C=
ENST00000481757.5:n.2455C=
ENST00000486058.5:n.1634C=
ENST00000493398.5:n.667C=
NM_018226.4:c.1521C=	NP_060696.4:p.Phe507=
XM_005247036.3:c.1511-23C=	XP_005247093.1:n.1511-23C=
NM_018226.5:c.1521C=	NP_060696.4:p.Phe507=
XM_005247036.4:c.1511-23C=	XP_005247093.1:n.1511-23C=
NM_018226.6:c.1521C= MANE Select	NP_060696.4:p.Phe507=