Canonical Allele Identifier: CA1339183957

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576573C= , CM000664.2:g.240576573C=	GRCh38
NC_000002.11:g.241515990C= , CM000664.1:g.241515990C=	GRCh37
NC_000002.10:g.241164663C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1549C= MANE Select	ENSP00000270357.4:p.Pro517=
ENST00000270357.8:c.856C=	ENSP00000270357.3:p.Pro286=
ENST00000437406.1:c.115C=	ENSP00000403319.1:p.Pro39=
ENST00000451363.5:c.190C=	ENSP00000414661.1:p.Pro64=
ENST00000464550.5:n.385C=
ENST00000471657.1:n.352C=
ENST00000481757.5:n.2483C=
ENST00000486058.5:n.1662C=
ENST00000493398.5:n.695C=
NM_018226.4:c.1549C=	NP_060696.4:p.Pro517=
XM_005247036.3:c.1516C=	XP_005247093.1:p.Pro506=
NM_018226.5:c.1549C=	NP_060696.4:p.Pro517=
XM_005247036.4:c.1516C=	XP_005247093.1:p.Pro506=
NM_018226.6:c.1549C= MANE Select	NP_060696.4:p.Pro517=