Canonical Allele Identifier: CA1339183814

Gene: RNPEPL1

Linked Data

• dbSNP Id: rs2093037456

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.240576278G>C , CM000664.2:g.240576278G>C	GRCh38
NC_000002.11:g.241515695G>C , CM000664.1:g.241515695G>C	GRCh37
NC_000002.10:g.241164368G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000270357.10:c.1511-257G>C MANE Select	ENSP00000270357.4:n.1511-257G>C
ENST00000270357.8:c.818-257G>C	ENSP00000270357.3:n.818-257G>C
ENST00000437406.1:c.110-290G>C	ENSP00000403319.1:n.110-290G>C
ENST00000451363.5:c.152-257G>C	ENSP00000414661.1:n.152-257G>C
ENST00000464550.5:n.347-257G>C
ENST00000471657.1:n.314-257G>C
ENST00000481757.5:n.2188G>C
ENST00000486058.5:n.1624-257G>C
ENST00000493398.5:n.657-257G>C
NM_018226.4:c.1511-257G>C	NP_060696.4:n.1511-257G>C
XM_005247036.3:c.1511-290G>C	XP_005247093.1:n.1511-290G>C
NM_018226.5:c.1511-257G>C	NP_060696.4:n.1511-257G>C
XM_005247036.4:c.1511-290G>C	XP_005247093.1:n.1511-290G>C
NM_018226.6:c.1511-257G>C MANE Select	NP_060696.4:n.1511-257G>C