Canonical Allele Identifier: CA916812909

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs1559417702

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576447dup , CM000664.2:g.240576447dup	GRCh38
NC_000002.11:g.241515864dup , CM000664.1:g.241515864dup	GRCh37
NC_000002.10:g.241164537dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-88dup MANE Select	ENSP00000270357.4:n.1511-88dup
ENST00000270357.8:c.818-88dup	ENSP00000270357.3:n.818-88dup
ENST00000437406.1:c.110-121dup	ENSP00000403319.1:n.110-121dup
ENST00000451363.5:c.152-88dup	ENSP00000414661.1:n.152-88dup
ENST00000464550.5:n.347-88dup
ENST00000471657.1:n.314-88dup
ENST00000481757.5:n.2357dup
ENST00000486058.5:n.1624-88dup
ENST00000493398.5:n.657-88dup
NM_018226.4:c.1511-88dup	NP_060696.4:n.1511-88dup
XM_005247036.3:c.1511-121dup	XP_005247093.1:n.1511-121dup
NM_018226.5:c.1511-88dup	NP_060696.4:n.1511-88dup
XM_005247036.4:c.1511-121dup	XP_005247093.1:n.1511-121dup
NM_018226.6:c.1511-88dup MANE Select	NP_060696.4:n.1511-88dup