Canonical Allele Identifier: CA1339183986

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576654C= , CM000664.2:g.240576654C=	GRCh38
NC_000002.11:g.241516071C= , CM000664.1:g.241516071C=	GRCh37
NC_000002.10:g.241164744C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1630C= MANE Select	ENSP00000270357.4:p.Pro544=
ENST00000270357.8:c.937C=	ENSP00000270357.3:p.Pro313=
ENST00000437406.1:c.196C=	ENSP00000403319.1:p.Pro66=
ENST00000451363.5:c.271C=	ENSP00000414661.1:p.Pro91=
ENST00000464550.5:n.466C=
ENST00000471657.1:n.433C=
ENST00000481757.5:n.2564C=
ENST00000486058.5:n.1743C=
ENST00000493398.5:n.776C=
NM_018226.4:c.1630C=	NP_060696.4:p.Pro544=
XM_005247036.3:c.1597C=	XP_005247093.1:p.Pro533=
NM_018226.5:c.1630C=	NP_060696.4:p.Pro544=
XM_005247036.4:c.1597C=	XP_005247093.1:p.Pro533=
NM_018226.6:c.1630C= MANE Select	NP_060696.4:p.Pro544=