Canonical Allele Identifier: CA1339183975

Gene: RNPEPL1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576620C= , CM000664.2:g.240576620C=	GRCh38
NC_000002.11:g.241516037C= , CM000664.1:g.241516037C=	GRCh37
NC_000002.10:g.241164710C=	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1596C= MANE Select	ENSP00000270357.4:p.Pro532=
ENST00000270357.8:c.903C=	ENSP00000270357.3:p.Pro301=
ENST00000437406.1:c.162C=	ENSP00000403319.1:p.Pro54=
ENST00000451363.5:c.237C=	ENSP00000414661.1:p.Pro79=
ENST00000464550.5:n.432C=
ENST00000471657.1:n.399C=
ENST00000481757.5:n.2530C=
ENST00000486058.5:n.1709C=
ENST00000493398.5:n.742C=
NM_018226.4:c.1596C=	NP_060696.4:p.Pro532=
XM_005247036.3:c.1563C=	XP_005247093.1:p.Pro521=
NM_018226.5:c.1596C=	NP_060696.4:p.Pro532=
XM_005247036.4:c.1563C=	XP_005247093.1:p.Pro521=
NM_018226.6:c.1596C= MANE Select	NP_060696.4:p.Pro532=