Canonical Allele Identifier: CA1339183972

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576612A= , CM000664.2:g.240576612A=	GRCh38
NC_000002.11:g.241516029A= , CM000664.1:g.241516029A=	GRCh37
NC_000002.10:g.241164702A=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1588A= MANE Select	ENSP00000270357.4:p.Thr530=
ENST00000270357.8:c.895A=	ENSP00000270357.3:p.Thr299=
ENST00000437406.1:c.154A=	ENSP00000403319.1:p.Thr52=
ENST00000451363.5:c.229A=	ENSP00000414661.1:p.Thr77=
ENST00000464550.5:n.424A=
ENST00000471657.1:n.391A=
ENST00000481757.5:n.2522A=
ENST00000486058.5:n.1701A=
ENST00000493398.5:n.734A=
NM_018226.4:c.1588A=	NP_060696.4:p.Thr530=
XM_005247036.3:c.1555A=	XP_005247093.1:p.Thr519=
NM_018226.5:c.1588A=	NP_060696.4:p.Thr530=
XM_005247036.4:c.1555A=	XP_005247093.1:p.Thr519=
NM_018226.6:c.1588A= MANE Select	NP_060696.4:p.Thr530=