Canonical Allele Identifier: CA1339183970

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576597C= , CM000664.2:g.240576597C=	GRCh38
NC_000002.11:g.241516014C= , CM000664.1:g.241516014C=	GRCh37
NC_000002.10:g.241164687C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1573C= MANE Select	ENSP00000270357.4:p.Gln525=
ENST00000270357.8:c.880C=	ENSP00000270357.3:p.Gln294=
ENST00000437406.1:c.139C=	ENSP00000403319.1:p.Gln47=
ENST00000451363.5:c.214C=	ENSP00000414661.1:p.Gln72=
ENST00000464550.5:n.409C=
ENST00000471657.1:n.376C=
ENST00000481757.5:n.2507C=
ENST00000486058.5:n.1686C=
ENST00000493398.5:n.719C=
NM_018226.4:c.1573C=	NP_060696.4:p.Gln525=
XM_005247036.3:c.1540C=	XP_005247093.1:p.Gln514=
NM_018226.5:c.1573C=	NP_060696.4:p.Gln525=
XM_005247036.4:c.1540C=	XP_005247093.1:p.Gln514=
NM_018226.6:c.1573C= MANE Select	NP_060696.4:p.Gln525=